Toggle navigation
Home
Browse
Tools
Mutation Finder
Variant Mapper
About
Display
NR_160917.2 - -
NR_160916.2 - -
NM_001127612.3 - NP_001121084.1
NM_001368921.2 - NP_001355850.1
NM_001368923.2 - NP_001355852.1
NM_001258462.3 - NP_001245391.1
NM_001368919.2 - NP_001355848.1
NM_001368890.2 - NP_001355819.1
NM_001310158.2 - NP_001297087.1
NM_001368888.2 - NP_001355817.1
NM_001258463.2 - NP_001245392.1
NM_001368915.2 - NP_001355844.1
NM_001368887.2 - NP_001355816.1
NM_001258464.2 - NP_001245393.1
NM_001368926.2 - NP_001355855.1
NM_001368914.2 - NP_001355843.1
NM_001604.6 - NP_001595.2
NM_001368893.2 - NP_001355822.1
NM_001368917.2 - NP_001355846.1
NM_000280.6 - NP_000271.1
NM_001368927.2 - NP_001355856.1
NM_001368912.2 - NP_001355841.1
NM_001368894.2 - NP_001355823.1 (MANE)
NM_001368910.2 - NP_001355839.1
NM_001368922.2 - NP_001355851.1
NM_001368909.2 - NP_001355838.1
NM_001368911.2 - NP_001355840.1
NM_001368904.2 - NP_001355833.1
NM_001368928.2 - NP_001355857.1
NM_001368916.2 - NP_001355845.1
NM_001258465.3 - NP_001245394.1
NM_001368925.2 - NP_001355854.1
NM_001368913.2 - NP_001355842.1
NM_001368892.2 - NP_001355821.1
NM_001368905.2 - NP_001355834.1
NM_001368920.2 - NP_001355849.1
NM_001368918.2 - NP_001355847.1
NM_001368889.2 - NP_001355818.1
NM_001368891.2 - NP_001355820.1
NM_001368924.2 - NP_001355853.1
NM_001368906.2 - NP_001355835.1
NM_001368908.2 - NP_001355837.1
NM_001368901.2 - NP_001355830.1
NM_001310161.3 - NP_001297090.1
NM_001310160.2 - NP_001297089.1
NM_001368899.2 - NP_001355828.1
NM_001368900.2 - NP_001355829.1
NM_001368907.2 - NP_001355836.1
NM_001368902.2 - NP_001355831.1
NM_001368929.2 - NP_001355858.1
NM_001368903.2 - NP_001355832.1
NM_001368930.2 - NP_001355859.1
NM_001310159.1 - NP_001297088.1
DNA
Protein
Gene Info.
Genome Build
GRCh38
Chromosome
11
Location
Chr11:31,788,526-31,818,461
LOEUF
0.169
Variant filter
By data sources
ClinVar
Pathogenic/ Likely pa...
Risk factor
Drug response
Association
Affect
VUS
Benign/Likely benign
Others
GnomAD
Common [>1%]
Rare [<1%]
ToMMo
Common [>1%]
Rare [<1%]
By consequences
Missense
Loss-of-function
Synonymous
Others
Gene region:
CDS
SpliceSite
UTR
Intron
Flanking
External resources
PAX6
paired box 6
×
Warning!!
Variant Map
DNA Sequence
Variant Map
Amino Acid Sequence
3D structure
Powered by
NGL
.
×
Available 3D structures for PAX6
Region
PDB code
Experiment
Protein name
Oligomeric state
%Identity
×
Options for Viewing Structures
Target protein
Style
Cartoon
Cartoon + Ball & Stick side-chains
Cartoon + Wireframe side-chains
Spacefill
Surface (It might take a while to show)
Color by
Variant source
Allele Frequency (in GnomAD)
Sequence Conservation
Secondary Structure
B-factor (pLDDT for AF2 model)
Element
Hydrophobicity
Electrostatic (Only Surface style)
Rainbow
The other protein(s)
Style
Cartoon
Cartoon + Ball & Stick side-chains
Cartoon + Wireframe side-chains
Backbone
Spacefill
Surface (It might take a while to show)
Color by
Chain
Display
Nucleotides
Color by
Element
Rainbow
Display
Ligands & Ions
Color
By Element
Display
Contacts
Display
×
Viewing Sequences
Single/MSA
Window Height
Short
Tall
Grande
Venti
Variant Table
variants
CSV
Show All
×
variants
Variant
Consequence
dbSNP
Allele Frequency
Clinical Significance
Prediction