Varaico: Literature-Extracted Genetic Variants

Gene:SOX4
Variant:p.H385_S386del1

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.H385_S386del1
c.1155_1157delCTC
Surrounding Variants
1 paper
NM_003107.3
p.S384C
c.1151C>G
1 paper
NM_003107.3
p.S380F
c.1139C>T
1 paper
NM_003107.3
p.S392del1
c.1174_1175delTCG
1 paper
NM_003107.3
p.S376S
c.1128G>A
1 paper
NM_003107.3
p.S395*
c.1184C>A
1 paper
NM_003107.3
p.D398N
c.1192G>A
1 paper
NM_003107.3
p.D399_E400insGT
c.1195_1199ins6
1 paper
NM_003107.3
p.A370V
c.1109C>T
1 paper
NM_003107.3
p.A370P
c.1108G>C
1 paper
NM_003107.3
p.S368L
c.1103C>T
1 paper
NM_003107.3
p.D404H
c.1210G>C
1 paper
NM_003107.3
p.P355L
c.1064C>T
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