Varaico: Literature-Extracted Genetic Variants

Gene:SOX4

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
1–12 of 164 variants
6 papers
NM_003107.3
p.A112P
c.334G>C
5 papers
NM_003107.3
p.L28V
c.82C>G
5 papers
NM_003107.3
p.I59S
c.176T>G
5 papers
NM_003107.3
p.K105N
c.315G>C
5 papers
NM_003107.3
p.K105N
c.315G>T
5 papers
NM_003107.3
p.A316V
c.947C>T
4 papers
NM_003107.3
p.R61Q
c.182G>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
3 papers
NM_003107.3
p.G44fs
c.130_131fs
3 papers
NM_003107.3
p.N64K
c.192C>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."