Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.L237Q

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.L237Q
c.710T>A
Surrounding Variants
1 paper
NM_003108.4
p.L237V
c.709C>G
1 paper
NM_003108.4
p.Q238K
c.712C>A
1 paper
NM_003108.4
p.Q238H
c.714G>C
1 paper
NM_003108.4
p.Q238H
c.714G>T
1 paper
NM_003108.4
p.L235M
c.703C>A
2 papers
NM_003108.4
p.E234*
c.700G>T
1 paper
NM_003108.4
p.D244_P251del0
c.730_753del24
1 paper
NM_003108.4
p.D231N
c.691G>A
2 papers
NM_003108.4
p.D225G
c.674A>G
11 papers
NM_003108.4
p.D233del1
c.697_698delGAC
1 paper
NM_003108.4
p.P251L
c.752C>T
1 paper
NM_003108.4
p.D223fs
c.667_668fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."