Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.A285V

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
2 papers
NM_003108.4
p.A285V
c.854C>T
Surrounding Variants
2 papers
NM_003108.4
p.E289K
c.865G>A
1 paper
NM_003108.4
p.S278R
c.834C>A
1 paper
NM_003108.4
p.S278R
c.834C>G
1 paper
NM_003108.4
p.L293insFs
c.877dupC
1 paper
NM_003108.4
p.S278R
c.832A>C
1 paper
NM_003108.4
p.L293fs
c.877_878fs
2 papers
NM_003108.4
p.Y294*
c.882C>A
2 papers
NM_003108.4
p.Y294*
c.882C>G
1 paper
NM_003108.4
p.D295H
c.883G>C
1 paper
NM_003108.4
p.D295E
c.885C>A
1 paper
NM_003108.4
p.D295E
c.885C>G
1 paper
NM_003108.4
p.V275M
c.823G>A
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