Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.I42T

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
2 papers
NM_001368894.2
p.I42T
c.125T>C
Surrounding Variants
8 papers
NM_001368894.2
p.I42S
c.125T>G
1 paper
NM_001368894.2
p.I42N
c.125T>A
1 paper
NM_001368894.2
p.I42M
c.126T>G
1 paper
NM_001368894.2
p.I42Fs
c.125_126delinsCFs
2 papers
NM_001368894.2
p.I42fs
c.124_125fs
1 paper
NM_001368894.2
p.I42F
c.124A>T
1 paper
NM_001368894.2
p.I42V
c.124A>G
2 papers
NM_001368894.2
p.I42L
c.124A>C
1 paper
NM_001368894.2
p.C40_D41del2
c.118_122del6
1 paper
NM_001368894.2
p.S43A
c.127T>G
14 papers
NM_001368894.2
p.S43P
c.127T>C
1 paper
NM_001368894.2
p.S43T
c.127T>A
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