Varaico: Literature-Extracted Genetic Variants

Gene:SOX4
Variant:p.S424*

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.S424*
c.1271C>A
Surrounding Variants
1 paper
NM_003107.3
p.A427V
c.1280C>T
1 paper
NM_003107.3
p.L419V
c.1255C>G
1 paper
NM_003107.3
p.S416T
c.1247G>C
1 paper
NM_003107.3
p.D404H
c.1210G>C
2 papers
NM_003107.3
p.E445*
c.1333G>T
1 paper
NM_003107.3
p.F446_T451delFs
c.1338_1353del16
1 paper
NM_003107.3
p.D448fs
c.1342_1343fs
1 paper
NM_003107.3
p.D448E
c.1344C>A
1 paper
NM_003107.3
p.D448E
c.1344C>G
1 paper
NM_003107.3
p.D399_E400insGT
c.1195_1199ins6
1 paper
NM_003107.3
p.D398N
c.1192G>A
1 paper
NM_003107.3
p.P452R
c.1355C>G
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