Varaico: Literature-Extracted Genetic Variants

Gene:SOX5
Variant:p.L590S

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
1 paper
NM_006940.6
p.L590S
c.1769T>C
Surrounding Variants
2 papers
NM_006940.6
p.G591R
c.1771G>C
1 paper
NM_006940.6
p.K588N
c.1764G>T
1 paper
NM_006940.6
p.K588N
c.1764G>C
1 paper
NM_178010.4
p.K202T
c.605A>C
5 papers
NM_006940.6
p.S587C
c.1759A>T
1 paper
NM_006940.6
p.N583S
c.1748A>G
3 papers
NM_006940.6
p.H582Y
c.1744C>T
1 paper
NM_006940.6
p.P579A
c.1735C>G
1 paper
NM_152989.5
p.K560E
c.1678A>G
4 papers
NM_006940.6
p.R571L
c.1712G>T
2 papers
NM_006940.6
p.R571Q
c.1712G>A
6 papers
NM_006940.6
p.R571W
c.1711C>T
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