Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.L46P

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
14 papers
NM_001368894.2
p.L46P
c.137T>C
Surrounding Variants
12 papers
NM_001368894.2
p.L46R
c.137T>G
2 papers
NM_001368894.2
p.L46Q
c.137T>A
1 paper
NM_001368894.2
p.L46L
c.138G>C
1 paper
NM_001368894.2
p.L46L
c.138G>A
8 papers
NM_001368894.2
p.L46V
c.136C>G
1 paper
NM_001368894.2
p.L46M
c.136C>A
1 paper
NM_001368894.2
p.I45M
c.135T>G
2 papers
NM_001368894.2
p.Q47*
c.139C>T
5 papers
NM_001368894.2
p.Q47E
c.139C>G
1 paper
NM_001368894.2
p.Q47K
c.139C>A
1 paper
NM_001368894.2
p.I45S
c.134T>G
3 papers
NM_001368894.2
p.I45T
c.134T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."