Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.K171*

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.K171*
c.511A>T
Surrounding Variants
1 paper
NM_003108.4
p.P173S
c.517C>T
1 paper
NM_003108.4
p.A174T
c.520G>A
2 papers
NM_003108.4
p.A174fs
c.520_521fs
1 paper
NM_003108.4
p.A176T
c.526G>A
6 papers
NM_003108.4
p.A176E
c.527C>A
1 paper
NM_003108.4
p.S160S
c.480C>T
1 paper
NM_003108.4
p.G181G
c.543C>T
1 paper
NM_003108.4
p.A185_G189del5
c.553_566del15
1 paper
NM_003108.4
p.A157V
c.470C>T
1 paper
NM_003108.4
p.G156A
c.467G>C
1 paper
NM_003108.4
p.G155D
c.464G>A
1 paper
NM_003108.4
p.G151G
c.453C>T
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