Varaico: Literature-Extracted Genetic Variants

Gene:SOX14

SOX14

24 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 8–76UCSCHMG (high mobility group) box
SOXpaa 77–204UCSCSOX transcription factor

Gene Aliases

HGNC Name

SRY-box transcription factor 14

HGNC Alias Symbol

SOX28

Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
1 paper
NM_004189.4
p.S5L
c.14C>T
1 paper
NM_004189.4
p.M12V
c.34A>G
1 paper
NM_004189.4
p.R23L
c.68G>T
1 paper
NM_004189.4
p.W46*
c.137G>A
1 paper
NM_004189.4
p.W46*
c.138G>A
1 paper
NM_004189.4
p.R63Q
c.188G>A
1 paper
NM_004189.4
p.R80Q
c.239G>A
1 paper
NM_004189.4
p.L87I
c.259C>A
1 paper
NM_004189.4
p.K88R
c.263A>G
1 paper
NM_004189.4
p.F94I
c.280T>A
1 paper
NM_004189.4
p.L99P
c.296T>C
1 paper
NM_004189.4
p.A107G
c.320C>G
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