Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.A373V

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.A373V
c.1118C>T
Surrounding Variants
1 paper
NM_003108.4
p.S377S
c.1131C>T
1 paper
NM_003108.4
p.L381fs
c.1141_1142fs
1 paper
NM_003108.4
p.L381insFs
c.1142_1143insT
1 paper
NM_003108.4
p.L381P
c.1142T>C
4 papers
NM_003108.4
p.G383insFs
c.1148dupG
1 paper
NM_003108.4
p.L381delins
c.1142_1143delinsCT
1 paper
NM_003108.4
p.G382R
c.1144G>A
1 paper
NM_003108.4
p.G382R
c.1144G>C
1 paper
NM_003108.4
p.A385_A387delFs
c.1153_1160del8
5 papers
NM_003108.4
p.G384fs
c.1150_1151fs
1 paper
NM_003108.4
p.A385fs
c.1153_1154fs
1 paper
NM_003108.4
p.D360N
c.1078G>A
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."