The PAX6 gene homepage

General information
Gene symbol PAX6
Gene name paired box 6
Chromosome 11
Chromosomal band p13
Imprinted Unknown
Genomic reference LRG_720
Transcript reference NM_000280.4, NM_001127612.1, NM_001258462.1, NM_001258463.1, NM_001258464.1, NM_001258465.1, NM_001310158.1, NM_001310159.1, NM_001310160.1, NM_001310161.1, NM_001604.5
Associated with diseases CA
Citation reference(s) -
Curators (1) MyHVP
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 1
Hidden variants 0
Date created March 01, 2021
Date last updated September 09, 2021
Version PAX6:210909

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 8620
Entrez Gene 5080
PubMed articles PAX6
OMIM - Gene 607108
OMIM - Diseases CA (congenital aniridia)
GeneCards PAX6
GeneTests PAX6

Active transcripts




NCBI ID     

NCBI Protein ID     

00000249 11 transcript variant 1 NM_000280.4 NP_000271.1 1
00000252 11 transcript variant 2 NM_001604.5 NP_001595.2 1
00000253 11 transcript variant 3 NM_001127612.1 NP_001121084.1 1
00000254 11 transcript variant 4 NM_001258462.1 NP_001245391.1 1
00000255 11 transcript variant 5 NM_001258463.1 NP_001245392.1 1
00000256 11 transcript variant 6 NM_001258464.1 NP_001245393.1 1
00000257 11 transcript variant 7 NM_001258465.1 NP_001245394.1 1
00000258 11 transcript variant 8 NM_001310158.1 NP_001297087.1 1
00000250 11 transcript variant 10 NM_001310160.1 NP_001297089.1 0
00000251 11 transcript variant 11 NM_001310161.1 NP_001297090.1 0
00000259 11 transcript variant 9 NM_001310159.1 NP_001297088.1 0

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