Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.P72P

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.P72P
c.216G>A
Surrounding Variants
2 papers
NM_003108.4
p.H75D
c.223C>G
3 papers
NM_003108.4
p.H75delFs
c.225delC
4 papers
NM_003108.4
p.N76D
c.226A>G
1 paper
NM_003108.4
p.N76K
c.228C>A
1 paper
NM_003108.4
p.N76K
c.228C>G
1 paper
NM_003108.4
p.A77T
c.229G>A
1 paper
NM_003108.4
p.I79L
c.235A>C
3 papers
NM_003108.4
p.I79V
c.235A>G
5 papers
NM_003108.4
p.S80F
c.239C>T
2 papers
NM_003108.4
p.R64H
c.191G>A
3 papers
NM_003108.4
p.R64P
c.191G>C
2 papers
NM_003108.4
p.R64L
c.191G>T
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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."