Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.Q255_V256Splc

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_000280.6
p.Q255_V256Splc
c.765+1G>T
Surrounding Variants
2 papers
NM_001368894.2
p.Q269_V270Splc
c.807+1G>C
3 papers
NM_000280.6
p.Q255_V256Splc
c.765+1G>A
NM_001368894.2
p.Q269_V270Splc
c.807+1G>A
5 papers
NM_000280.6
p.Q255H
c.765G>T
NM_001368894.2
p.Q269H
c.807G>T
1 paper
NM_001368894.2
p.I268_Q269insFs
c.802_806dup5
5 papers
NM_000280.6
p.Q255H
c.765G>C
NM_001368894.2
p.Q269H
c.807G>C
1 paper
NM_000280.6
p.Q255L
c.764A>T
4 papers
NM_000280.6
p.Q255R
c.764A>G
NM_001368894.2
p.Q269R
c.806A>G
3 papers
NM_000280.6
p.Q255*
c.763C>T
1 paper
NM_001368894.2
p.R267S
c.801A>T
1 paper
NM_001368894.2
p.R267S
c.801A>C
1 paper
NM_001368894.2
p.R267I
c.800G>T
1 paper
NM_001368894.2
p.R267T
c.800G>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."