Varaico: Literature-Extracted Genetic Variants

Gene:SOX4
Variant:p.M120V

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.M120V
c.358A>G
Surrounding Variants
2 papers
NM_003107.3
p.H119Y
c.355C>T
1 paper
NM_003107.3
p.A121G
c.362C>G
1 paper
NM_003107.3
p.Y123C
c.368A>G
2 papers
NM_003107.3
p.A112G
c.335C>G
2 papers
NM_003107.3
p.A112V
c.335C>T
3 papers
NM_003107.3
p.A112T
c.334G>A
6 papers
NM_003107.3
p.A112P
c.334G>C
1 paper
NM_003107.3
p.Y128H
c.382T>C
1 paper
NM_003107.3
p.E111*
c.331G>T
1 paper
NM_003107.3
p.R129Q
c.386G>A
1 paper
NM_003107.3
p.R110insFs
c.329_330ins7
2 papers
NM_003107.3
p.K132R
c.395A>G
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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."