Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.C29*

SOX11

184 papers

RefSeq Summary

This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. Th...

Pfam Domains

HMG_boxaa 49–117UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SRY-box transcription factor 11

HGNC Previous Names

SRY (sex determining region Y)-box 11; SRY-box 11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_003108.4
p.C29*
c.87C>A
Surrounding Variants
1 paper
NM_003108.4
p.V32V
c.96G>A
1 paper
NM_003108.4
p.G24D
c.71G>A
1 paper
NM_003108.4
p.E36V
c.107A>T
1 paper
NM_003108.4
p.T21T
c.63G>T
1 paper
NM_003108.4
p.D38V
c.113A>T
1 paper
NM_003108.4
p.T21_G24del4
c.61_71del12
1 paper
NM_003108.4
p.P39T
c.115C>A
1 paper
NM_003108.4
p.W41_T44delFs
c.121_131del11
1 paper
NM_003108.4
p.W41fs
c.121_122fs
2 papers
NM_003108.4
p.E17fs
c.49_50fs
1 paper
NM_003108.4
p.R16L
c.47G>T
2 papers
NM_003108.4
p.E17delFs
c.49delG
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."