Varaico: Literature-Extracted Genetic Variants

Gene:SOX5
Variant:p.R213*

SOX5

153 papers

RefSeq Summary

This 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. The encoded p...

Pfam Domains

HMG_boxaa 556–624UCSCHMG (high mobility group) box
HMG_boxaa 556–624UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SRY-box transcription factor 5

HGNC Alias Symbols

L-SOX5; MGC35153

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_006940.6
p.R213*
c.637C>T
Surrounding Variants
1 paper
NM_006940.6
p.E214*
c.640G>T
1 paper
NM_006940.6
p.S211insFs
c.632_633insT
1 paper
NM_001261414.3
p.Q202P
c.605A>C
4 papers
NM_006940.6
p.Q208*
c.622C>T
1 paper
NM_006940.6
p.I206V
c.616A>G
1 paper
NM_001261415.3
p.Q213*
c.637C>T
1 paper
NM_001261414.3
p.L213L
c.637C>T
1 paper
NM_006940.6
p.E193K
c.577G>A
2 papers
NM_006940.6
p.R235C
c.703C>T
1 paper
NM_006940.6
p.R235H
c.704G>A
1 paper
NM_006940.6
p.Q236insFs
c.707_708insT
1 paper
NM_006940.6
p.Q244L
c.731A>T
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