Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.D295H

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.D295H
c.883G>C
Surrounding Variants
2 papers
NM_003108.4
p.Y294*
c.882C>A
2 papers
NM_003108.4
p.Y294*
c.882C>G
1 paper
NM_003108.4
p.D295E
c.885C>A
1 paper
NM_003108.4
p.D295E
c.885C>G
1 paper
NM_003108.4
p.E296*
c.886G>T
1 paper
NM_003108.4
p.L293fs
c.877_878fs
1 paper
NM_003108.4
p.L293insFs
c.877dupC
1 paper
NM_003108.4
p.R298Q
c.893G>A
2 papers
NM_003108.4
p.E289K
c.865G>A
1 paper
NM_003108.4
p.S303A
c.907T>G
1 paper
NM_003108.4
p.S303*
c.908C>A
2 papers
NM_003108.4
p.A285V
c.854C>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."