Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.M57I

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.M57I
c.171G>A
Surrounding Variants
3 papers
NM_003108.4
p.M57T
c.170T>C
1 paper
NM_003108.4
p.M57V
c.169A>G
1 paper
NM_003108.4
p.V58V
c.174A>T
2 papers
NM_003108.4
p.F56L
c.168C>A
2 papers
NM_003108.4
p.F56L
c.168C>G
2 papers
NM_003108.4
p.W59R
c.175T>A
2 papers
NM_003108.4
p.W59R
c.175T>C
1 paper
NM_003108.4
p.F56C
c.167T>G
2 papers
NM_003108.4
p.W59*
c.176G>A
2 papers
NM_003108.4
p.F56L
c.166T>C
2 papers
NM_003108.4
p.W59*
c.177G>A
15 papers
NM_003108.4
p.S60P
c.178T>C
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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."