Varaico: Literature-Extracted Genetic Variants

Gene:SOX4
Variant:p.M63V

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.M63V
c.187A>G
Surrounding Variants
3 papers
NM_003107.3
p.N64K
c.192C>A
3 papers
NM_003107.3
p.N64K
c.192C>G
4 papers
NM_003107.3
p.R61Q
c.182G>A
2 papers
NM_003107.3
p.A65T
c.193G>A
4 papers
NM_003107.3
p.F66L
c.196T>C
4 papers
NM_003107.3
p.F66L
c.198C>A
4 papers
NM_003107.3
p.F66L
c.198C>G
5 papers
NM_003107.3
p.I59S
c.176T>G
1 paper
NM_003107.3
p.M67L
c.199A>C
2 papers
NM_003107.3
p.M67V
c.199A>G
1 paper
NM_003107.3
p.M67L
c.199A>T
1 paper
NM_003107.3
p.H58P
c.173A>C
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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."