Varaico: Literature-Extracted Genetic Variants

Gene:SOX4
Variant:p.D448fs

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.D448fs
c.1342_1343fs
Surrounding Variants
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.F446_T451delFs
c.1338_1353del16
2 papers
NM_003107.3
p.E445*
c.1333G>T
1 paper
NM_003107.3
p.P452R
c.1355C>G
1 paper
NM_003107.3
p.S455R
c.1363A>C
1 paper
NM_003107.3
p.S455R
c.1365C>A
1 paper
NM_003107.3
p.S455R
c.1365C>G
1 paper
NM_003107.3
p.M457L
c.1369A>C
1 paper
NM_003107.3
p.M457L
c.1369A>T
1 paper
NM_003107.3
p.S459W
c.1376C>G
2 papers
NM_003107.3
p.D461E
c.1383C>A
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