Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.K88Q

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
1 paper
NM_003108.4
p.K88Q
c.262A>C
Surrounding Variants
5 papers
NM_003108.4
p.W87R
c.259T>A
5 papers
NM_003108.4
p.W87R
c.259T>C
1 paper
NM_003108.4
p.R86H
c.257G>A
1 paper
NM_003108.4
p.M89I
c.267G>A
1 paper
NM_003108.4
p.M89I
c.267G>C
1 paper
NM_003108.4
p.R86L
c.257G>T
1 paper
NM_003108.4
p.M89I
c.267G>T
1 paper
NM_003108.4
p.R86C
c.256C>T
2 papers
NM_003108.4
p.R86fs
c.256_257fs
1 paper
NM_003108.4
p.G84G
c.252C>T
2 papers
NM_003108.4
p.G84D
c.251G>A
7 papers
NM_003108.4
p.G84V
c.251G>T
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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."