Varaico: Literature-Extracted Genetic Variants

Gene:SOX2

SOX2

696 papers

RefSeq Summary

This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The pr...

Pfam Domains

HMG_boxaa 41–109UCSCHMG (high mobility group) box
SOXpaa 110–200UCSCSOX transcription factor

Gene Aliases

HGNC Name

SRY-box transcription factor 2

HGNC Previous Names

SRY (sex determining region Y)-box 2; SRY-box 2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 566 variants
23 papers
NM_003106.4
p.N24_A30delFs
c.70_89del20
17 papers
NM_003106.4
p.Q177*
c.529C>T
13 papers
NM_003106.4
p.N24fs
c.70_71fs
13 papers
NM_003106.4
p.Y160*
c.480C>G
12 papers
NM_003106.4
p.G130A
c.389G>C
12 papers
NM_003106.4
p.T232N
c.695C>A
11 papers
NM_003106.4
p.Y160*
c.480C>A
10 papers
NM_003106.4
p.L97P
c.290T>C
10 papers
NM_003106.4
p.Y160delFs
c.479delA
9 papers
NM_003106.4
p.G20_G21insFs
c.60_61insG
9 papers
NM_003106.4
p.N24_A29delFs
c.70_86del17
9 papers
NM_003106.4
p.N46K
c.138T>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."