Varaico: Literature-Extracted Genetic Variants

Gene:SOX4
Variant:p.P355L

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.P355L
c.1064C>T
Surrounding Variants
1 paper
NM_003107.3
p.G352R
c.1054G>C
1 paper
NM_003107.3
p.A350P
c.1048G>C
1 paper
NM_003107.3
p.P349L
c.1046C>T
3 papers
NM_003107.3
p.S347*
c.1040C>A
1 paper
NM_003107.3
p.S368L
c.1103C>T
1 paper
NM_003107.3
p.A370P
c.1108G>C
1 paper
NM_003107.3
p.A370V
c.1109C>T
1 paper
NM_003107.3
p.A336S
c.1006G>T
1 paper
NM_003107.3
p.S376S
c.1128G>A
2 papers
NM_003107.3
p.S333*
c.998C>A
2 papers
NM_003107.3
p.S333L
c.998C>T
1 paper
NM_003107.3
p.S380F
c.1139C>T
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