Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.I42M

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.I42M
c.126T>G
Surrounding Variants
1 paper
NM_001368894.2
p.I42Fs
c.125_126delinsCFs
8 papers
NM_001368894.2
p.I42S
c.125T>G
1 paper
NM_001368894.2
p.S43A
c.127T>G
14 papers
NM_001368894.2
p.S43P
c.127T>C
2 papers
NM_001368894.2
p.I42T
c.125T>C
1 paper
NM_001368894.2
p.S43T
c.127T>A
1 paper
NM_001368894.2
p.I42N
c.125T>A
1 paper
NM_001368894.2
p.S43fs
c.127_128fs
2 papers
NM_001368894.2
p.I42fs
c.124_125fs
9 papers
NM_001368894.2
p.S43F
c.128C>T
1 paper
NM_001368894.2
p.S43C
c.128C>G
1 paper
NM_001368894.2
p.I42insFs
c.125dupT
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