Varaico: Literature-Extracted Genetic Variants

Gene:PAX6

PAX6

773 papers

RefSeq Summary

This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, th...

Pfam Domains

PAXaa 4–128UCSC'Paired box' domain
Homeodomainaa 211–267UCSCHomeodomain

Gene Aliases

HGNC Name

paired box 6

HGNC Previous Symbols

AN1; AN2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 1764 variants
42 papers
NM_001368894.2
p.R26G
c.76C>G
20 papers
NM_001368894.2
p.G18R
c.52G>C
20 papers
NM_001368894.2
p.G18R
c.52G>A
17 papers
NM_001368894.2
p.G18W
c.52G>T
17 papers
NM_001368894.2
p.A33P
c.97G>C
16 papers
NM_001368894.2
p.C40*
c.120C>A
15 papers
NM_001368894.2
p.R38W
c.112C>T
14 papers
NM_001368894.2
p.R38delFs
c.112delG
14 papers
NM_001368894.2
p.S43P
c.127T>C
14 papers
NM_001368894.2
p.L46P
c.137T>C
14 papers
NM_000280.6
p.R240*
c.718C>T
13 papers
NM_001368894.2
p.R38fs
c.112_113fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."