Varaico: Literature-Extracted Genetic Variants

Gene:SOX4
Variant:p.N7I

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.N7I
c.20A>T
Surrounding Variants
1 paper
NM_003107.3
p.E9G
c.26A>G
1 paper
NM_003107.3
p.T5A
c.13A>G
1 paper
NM_003107.3
p.Q4Q
c.12A>G
1 paper
NM_003107.3
p.Q4H
c.12A>T
1 paper
NM_003107.3
p.Q4*
c.10C>T
1 paper
NM_003107.3
p.V2V
c.6G>T
1 paper
NM_003107.3
p.E12E
c.36A>G
1 paper
NM_003107.3
p.A13E
c.38C>A
1 paper
NM_003107.3
p.A13G
c.38C>G
1 paper
NM_003107.3
p.A24T
c.70G>A
1 paper
NM_003107.3
p.A24P
c.70G>C
1 paper
NM_003107.3
p.A24S
c.70G>T
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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."