Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.S35R

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
1 paper
NM_001368894.2
p.S35R
c.105C>G
Surrounding Variants
2 papers
NM_001368894.2
p.S35R
c.105C>A
8 papers
NM_001368894.2
p.G36W
c.106G>T
1 paper
NM_001368894.2
p.S35I
c.104G>T
1 paper
NM_001368894.2
p.S35insFs
c.105dupC
11 papers
NM_001368894.2
p.G36R
c.106G>C
1 paper
NM_001368894.2
p.S35T
c.104G>C
11 papers
NM_001368894.2
p.G36R
c.106G>A
1 paper
NM_001368894.2
p.S35N
c.104G>A
1 paper
NM_001368894.2
p.H34_S35delFs
c.102_103delTG
5 papers
NM_001368894.2
p.G36V
c.107G>T
8 papers
NM_001368894.2
p.G36A
c.107G>C
10 papers
NM_001368894.2
p.G36E
c.107G>A
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