Varaico: Literature-Extracted Genetic Variants

Gene:SOX4
Variant:p.A231_A232del2

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.A231_A232del2
c.691_695del6
Surrounding Variants
1 paper
NM_003107.3
p.A231_A233delins
c.692_697delinsATGACT
1 paper
NM_003107.3
p.A234_A235insFs
c.702_703insCG
2 papers
NM_003107.3
p.G227del1
c.679_680delGGG
2 papers
NM_003107.3
p.G225_G227ins1
c.675_680dup6
1 paper
NM_003107.3
p.G226_G227del1
c.678_680delCGG
1 paper
NM_003107.3
p.L218P
c.653T>C
2 papers
NM_003107.3
p.A244_G251del0
c.730_753del24
1 paper
NM_003107.3
p.K217Q
c.649A>C
1 paper
NM_003107.3
p.A246G
c.737C>G
1 paper
NM_003107.3
p.P249S
c.745C>T
1 paper
NM_003107.3
p.V211fs
c.631_632fs
1 paper
NM_003107.3
p.V211insFs
c.631dupG
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