Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.K50Q

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
6 papers
NM_003108.4
p.K50Q
c.148A>C
Surrounding Variants
12 papers
NM_003108.4
p.K50N
c.150G>C
12 papers
NM_003108.4
p.K50N
c.150G>T
5 papers
NM_003108.4
p.I49N
c.146T>A
1 paper
NM_003108.4
p.I49S
c.146T>G
2 papers
NM_003108.4
p.I49L
c.145A>C
5 papers
NM_003108.4
p.R51G
c.151C>G
4 papers
NM_003108.4
p.R51W
c.151C>T
4 papers
NM_003108.4
p.R51Q
c.152G>A
4 papers
NM_003108.4
p.R51L
c.152G>T
2 papers
NM_003108.4
p.H48D
c.142C>G
2 papers
NM_003108.4
p.P52S
c.154C>T
1 paper
NM_003108.4
p.P52Q
c.155C>A
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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."