Varaico: Literature-Extracted Genetic Variants

Gene:SOX4
Variant:p.K105K

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.K105K
c.315G>A
Surrounding Variants
5 papers
NM_003107.3
p.K105N
c.315G>C
5 papers
NM_003107.3
p.K105N
c.315G>T
1 paper
NM_003107.3
p.K105R
c.314A>G
1 paper
NM_003107.3
p.P107S
c.319C>T
2 papers
NM_003107.3
p.D104del1
c.310_311delGAC
2 papers
NM_003107.3
p.S103G
c.307A>G
1 paper
NM_003107.3
p.R110insFs
c.329_330ins7
2 papers
NM_003107.3
p.K101T
c.302A>C
1 paper
NM_003107.3
p.E111*
c.331G>T
3 papers
NM_003107.3
p.A112T
c.334G>A
6 papers
NM_003107.3
p.A112P
c.334G>C
3 papers
NM_003107.3
p.L99P
c.296T>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."