Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.S278R

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.S278R
c.834C>A
Surrounding Variants
1 paper
NM_003108.4
p.S278R
c.834C>G
1 paper
NM_003108.4
p.S278R
c.832A>C
1 paper
NM_003108.4
p.V275M
c.823G>A
4 papers
NM_003108.4
p.K274*
c.820A>T
2 papers
NM_003108.4
p.A285V
c.854C>T
4 papers
NM_003108.4
p.N271fs
c.811_812fs
2 papers
NM_003108.4
p.N271_V272delFs
c.811_814del4
2 papers
NM_003108.4
p.E289K
c.865G>A
1 paper
NM_003108.4
p.R268K
c.803G>A
1 paper
NM_003108.4
p.L293insFs
c.877dupC
2 papers
NM_003108.4
p.S264*
c.791C>A
1 paper
NM_003108.4
p.L293fs
c.877_878fs
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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."