Varaico: Literature-Extracted Genetic Variants

Gene:SOX4
Variant:p.G44R

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.G44R
c.130G>C
Surrounding Variants
3 papers
NM_003107.3
p.G44fs
c.130_131fs
1 paper
NM_003107.3
p.G44_K45delins
c.130_133delinsCGCT
1 paper
NM_003107.3
p.K45R
c.134A>G
1 paper
NM_003107.3
p.P36L
c.107C>T
1 paper
NM_003107.3
p.T54P
c.160A>C
1 paper
NM_003107.3
p.S56delFs
c.168delT
1 paper
NM_003107.3
p.H58P
c.173A>C
5 papers
NM_003107.3
p.I59S
c.176T>G
5 papers
NM_003107.3
p.L28V
c.82C>G
2 papers
NM_003107.3
p.E27*
c.79G>T
4 papers
NM_003107.3
p.R61Q
c.182G>A
1 paper
NM_003107.3
p.M63V
c.187A>G
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