Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.S435S

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.S435S
c.1305C>T
Surrounding Variants
1 paper
NM_003108.4
p.T440I
c.1319C>T
2 papers
NM_003108.4
p.W429*
c.1287G>A
2 papers
NM_003108.4
p.W429*
c.1286G>A
1 paper
NM_003108.4
p.W429_E431del3
c.1285_1292del9
1 paper
NM_003108.4
p.D428_W429ins6
c.1282_1286ins18
1 paper
NM_003108.4
p.A426T
c.1276G>A
1 paper
NM_003108.4
p.E423D
c.1269G>C
1 paper
NM_003108.4
p.E423D
c.1269G>T
1 paper
NM_003108.4
p.P419L
c.1256C>T
1 paper
NM_003108.4
p.P419S
c.1255C>T
1 paper
NM_003108.4
p.C417W
c.1251C>G
1 paper
NM_003108.4
p.F413V
c.1237T>G
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