Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.S6T

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.S6T
c.17G>C
Surrounding Variants
2 papers
NM_001368894.2
p.S6I
c.17G>T
1 paper
NM_001368894.2
p.S6N
c.17G>A
1 paper
NM_001368894.2
p.S6R
c.18C>G
1 paper
NM_001368894.2
p.S6R
c.18C>A
1 paper
NM_001368894.2
p.S6R
c.16A>C
1 paper
NM_001368894.2
p.H5delFs
c.15delG
5 papers
NM_001368894.2
p.G7*
c.19G>T
5 papers
NM_001368894.2
p.G7R
c.19G>C
5 papers
NM_001368894.2
p.G7R
c.19G>A
1 paper
NM_001368894.2
p.H5Q
c.15C>G
1 paper
NM_001368894.2
p.H5Q
c.15C>A
1 paper
NM_001368894.2
p.G7fs
c.19_20fs
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