Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.M53R

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
4 papers
NM_003108.4
p.M53R
c.158T>G
Surrounding Variants
3 papers
NM_003108.4
p.M53V
c.157A>G
5 papers
NM_003108.4
p.M53I
c.159G>A
5 papers
NM_003108.4
p.M53I
c.159G>C
5 papers
NM_003108.4
p.M53I
c.159G>T
1 paper
NM_003108.4
p.P52P
c.156G>A
1 paper
NM_003108.4
p.P52Q
c.155C>A
3 papers
NM_003108.4
p.P52L
c.155C>T
2 papers
NM_003108.4
p.P52S
c.154C>T
3 papers
NM_003108.4
p.A55T
c.163G>A
4 papers
NM_003108.4
p.R51Q
c.152G>A
4 papers
NM_003108.4
p.R51L
c.152G>T
5 papers
NM_003108.4
p.R51G
c.151C>G
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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."