Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.S4N

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.S4N
c.11G>A
Surrounding Variants
2 papers
NM_001368894.2
p.S4fs
c.10_11fs
1 paper
NM_001368894.2
p.S4I
c.11G>T
1 paper
NM_001368894.2
p.S4T
c.11G>C
1 paper
NM_001368894.2
p.S4R
c.12T>G
1 paper
NM_001368894.2
p.S4R
c.12T>A
1 paper
NM_001368894.2
p.S4Splc
c.11-1G>T
1 paper
NM_001368894.2
p.S4R
c.10A>C
1 paper
NM_001368894.2
p.H5Y
c.13C>T
3 papers
NM_001368894.2
p.H5D
c.13C>G
2 papers
NM_001368894.2
p.H5N
c.13C>A
1 paper
NM_001368894.2
p.H5fs
c.13_14fs
4 papers
NM_001368894.2
p.S4Splc
c.11-2A>G
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."