Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.R38W

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
Selected Variant
15 papers
NM_001368894.2
p.R38W
c.112C>T
Surrounding Variants
13 papers
NM_001368894.2
p.R38fs
c.112_113fs
8 papers
NM_001368894.2
p.R38G
c.112C>G
1 paper
NM_001368894.2
p.R38L
c.113G>T
1 paper
NM_001368894.2
p.R38insFs
c.112dupC
6 papers
NM_001368894.2
p.R38P
c.113G>C
10 papers
NM_001368894.2
p.R38Q
c.113G>A
14 papers
NM_001368894.2
p.R38delFs
c.112delG
1 paper
NM_001368894.2
p.A37A
c.111C>T
1 paper
NM_001368894.2
p.A37fs
c.109_110fs
2 papers
NM_001368894.2
p.R38fs
c.112_113fs
1 paper
NM_001368894.2
p.A37V
c.110C>T
1 paper
NM_001368894.2
p.A37G
c.110C>G
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