Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.R19_E31del13

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.R19_E31del13
c.55_92del39
Surrounding Variants
2 papers
NM_001368894.2
p.L32R
c.95T>G
2 papers
NM_001368894.2
p.L32P
c.95T>C
1 paper
NM_001368894.2
p.L32Q
c.95T>A
1 paper
NM_001368894.2
p.P22_L32del0
c.65_94del30
1 paper
NM_001368894.2
p.L32L
c.94C>T
7 papers
NM_001368894.2
p.L32V
c.94C>G
1 paper
NM_001368894.2
p.L32I
c.94C>A
2 papers
NM_001368894.2
p.E31D
c.93G>T
1 paper
NM_001368894.2
p.A33S
c.97G>T
17 papers
NM_001368894.2
p.A33P
c.97G>C
2 papers
NM_001368894.2
p.E31D
c.93G>C
2 papers
NM_001368894.2
p.A33T
c.97G>A
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