Varaico: Literature-Extracted Genetic Variants

Gene:SOX4
Variant:p.V309_G311del3

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.V309_G311del3
c.925_932del9
Surrounding Variants
1 paper
NM_003107.3
p.P308P
c.924C>A
1 paper
NM_003107.3
p.G310D
c.929G>A
1 paper
NM_003107.3
p.G315A
c.944G>C
2 papers
NM_003107.3
p.A316S
c.946G>T
1 paper
NM_003107.3
p.A316G
c.947C>G
5 papers
NM_003107.3
p.A316V
c.947C>T
1 paper
NM_003107.3
p.G323D
c.968G>A
2 papers
NM_003107.3
p.Y325*
c.975C>A
2 papers
NM_003107.3
p.Y325*
c.975C>G
1 paper
NM_003107.3
p.E326K
c.976G>A
1 paper
NM_003107.3
p.E328G
c.983A>G
1 paper
NM_003107.3
p.G329_A330ins7
c.985_989ins21
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