Varaico: Literature-Extracted Genetic Variants

Gene:SOX4
Variant:p.G94D

SOX4

122 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 59–127UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SRY-box transcription factor 4

HGNC Previous Names

SRY (sex determining region Y)-box 4; SRY-box 4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003107.3
p.G94D
c.281G>A
Surrounding Variants
1 paper
NM_003107.3
p.K95E
c.283A>G
1 paper
NM_003107.3
p.K95R
c.284A>G
1 paper
NM_003107.3
p.L93Q
c.278T>A
1 paper
NM_003107.3
p.R92Q
c.275G>A
3 papers
NM_003107.3
p.W97G
c.289T>G
1 paper
NM_003107.3
p.W97*
c.290G>A
1 paper
NM_003107.3
p.W97*
c.291G>A
2 papers
NM_003107.3
p.W97C
c.291G>C
2 papers
NM_003107.3
p.W97C
c.291G>T
3 papers
NM_003107.3
p.L99P
c.296T>C
1 paper
NM_003107.3
p.E88K
c.262G>A
2 papers
NM_003107.3
p.K101T
c.302A>C
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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."