Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.R64H

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.R64H
c.191G>A
Surrounding Variants
3 papers
NM_003108.4
p.R64P
c.191G>C
2 papers
NM_003108.4
p.R64L
c.191G>T
2 papers
NM_003108.4
p.R64S
c.190C>A
3 papers
NM_003108.4
p.R64C
c.190C>T
1 paper
NM_003108.4
p.E63fs
c.187_188fs
1 paper
NM_003108.4
p.I62_E63delFs
c.185_189del5
1 paper
NM_003108.4
p.K61M
c.182A>T
2 papers
NM_003108.4
p.S60F
c.179C>T
15 papers
NM_003108.4
p.S60P
c.178T>C
2 papers
NM_003108.4
p.W59*
c.177G>A
2 papers
NM_003108.4
p.W59*
c.176G>A
2 papers
NM_003108.4
p.W59R
c.175T>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."