Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.H109N

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
3 papers
NM_003108.4
p.H109N
c.325C>A
Surrounding Variants
1 paper
NM_003108.4
p.H109D
c.325C>G
1 paper
NM_003108.4
p.H109Y
c.325C>T
4 papers
NM_003108.4
p.H109P
c.326A>C
2 papers
NM_003108.4
p.K108T
c.323A>C
1 paper
NM_003108.4
p.K108E
c.322A>G
1 paper
NM_003108.4
p.R106Q
c.317G>A
3 papers
NM_003108.4
p.R106P
c.317G>C
1 paper
NM_003108.4
p.R106G
c.316C>G
2 papers
NM_003108.4
p.R106W
c.316C>T
1 paper
NM_003108.4
p.L105_R106insFs
c.315_316insC
1 paper
NM_003108.4
p.L105P
c.314T>C
4 papers
NM_003108.4
p.Y113H
c.337T>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."