Varaico: Literature-Extracted Genetic Variants

Gene:SOX5
Variant:p.G359S

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.G359S
c.1075G>A
Surrounding Variants
2 papers
NM_006940.6
p.Q362P
c.1085A>C
7 papers
NM_152989.5
p.G341*
c.1021G>T
NM_006940.6
p.G354*
c.1060G>T
1 paper
NM_006940.6
p.L365I
c.1093C>A
1 paper
NM_006940.6
p.D377E
c.1131C>G
1 paper
NM_006940.6
p.Q339_Q340Splc
c.1018-1G>A
1 paper
NM_006940.6
p.P383L
c.1148C>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."