Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.I45L

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.I45L
c.133A>C
Surrounding Variants
1 paper
NM_001368894.2
p.I45F
c.133A>T
1 paper
NM_001368894.2
p.I45V
c.133A>G
1 paper
NM_001368894.2
p.I45S
c.134T>G
3 papers
NM_001368894.2
p.I45T
c.134T>C
1 paper
NM_001368894.2
p.I45N
c.134T>A
1 paper
NM_001368894.2
p.I45M
c.135T>G
1 paper
NM_001368894.2
p.R44L
c.131G>T
4 papers
NM_001368894.2
p.R44P
c.131G>C
11 papers
NM_001368894.2
p.R44Q
c.131G>A
1 paper
NM_001368894.2
p.S43delFs
c.128delG
11 papers
NM_001368894.2
p.R44*
c.130C>T
8 papers
NM_001368894.2
p.L46V
c.136C>G
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