Varaico: Literature-Extracted Genetic Variants

Gene:SOX14
Variant:p.R126L

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
Selected Variant
1 paper
NM_004189.4
p.R126L
c.377G>T
Surrounding Variants
1 paper
NM_004189.4
p.E123*
c.367G>T
1 paper
NM_004189.4
p.P130L
c.389C>T
1 paper
NM_004189.4
p.L118I
c.352C>A
1 paper
NM_004189.4
p.S137F
c.410C>T
1 paper
NM_004189.4
p.L138M
c.412C>A
1 paper
NM_004189.4
p.A107G
c.320C>G
1 paper
NM_004189.4
p.L99P
c.296T>C
1 paper
NM_004189.4
p.F94I
c.280T>A
1 paper
NM_004189.4
p.K88R
c.263A>G
1 paper
NM_004189.4
p.L87I
c.259C>A
1 paper
NM_004189.4
p.R80Q
c.239G>A
1 paper
NM_004189.4
p.T187K
c.560C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."