Varaico: Literature-Extracted Genetic Variants

Gene:SOX4
Variant:p.I77_M78delFs

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.I77_M78delFs
c.231_232delCA
Surrounding Variants
1 paper
NM_003107.3
p.I77V
c.229A>G
1 paper
NM_003107.3
p.Q80H
c.240G>C
1 paper
NM_003107.3
p.Q80H
c.240G>T
2 papers
NM_003107.3
p.E73G
c.218A>G
1 paper
NM_003107.3
p.S81L
c.242C>T
1 paper
NM_003107.3
p.Q71*
c.211C>T
1 paper
NM_003107.3
p.M84L
c.250A>C
1 paper
NM_003107.3
p.M84L
c.250A>T
1 paper
NM_003107.3
p.H85Y
c.253C>T
2 papers
NM_003107.3
p.W69G
c.205T>G
1 paper
NM_003107.3
p.A87V
c.260C>T
1 paper
NM_003107.3
p.M67L
c.199A>C
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