Varaico: Literature-Extracted Genetic Variants

Gene:TWIST2
Variant:p.E75Q

TWIST2

49 papers

RefSeq Summary

The protein encoded by this gene is a basic helix-loop-helix type transcription factor and shares similarity with Twist. This protein may inhibit osteoblast maturation and maintain cells in a preosteo...

Pfam Domains

HLHaa 67–118UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

twist family bHLH transcription factor 2

HGNC Alias Symbols

DERMO1; Dermo-1; bHLHa39

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_001271893.4
p.E75Q
c.223G>C
Surrounding Variants
13 papers
NM_001271893.4
p.E75K
c.223G>A
2 papers
NM_001271893.4
p.Q77_R78ins0
c.229_234dup6
8 papers
NM_001271893.4
p.E75A
c.224A>C
1 paper
NM_001271893.4
p.E75G
c.224A>G
1 paper
NM_001271893.4
p.E75V
c.224A>T
9 papers
NM_001271893.4
p.Q65*
c.193C>T
1 paper
NM_001271893.4
p.A58A
c.174G>A
1 paper
NM_001271893.4
p.A58V
c.173C>T
1 paper
NM_001271893.4
p.K91N
c.273G>C
1 paper
NM_001271893.4
p.K91N
c.273G>T
1 paper
NM_001271893.4
p.I92I
c.276C>T
4 papers
NM_001271893.4
p.S57fs
c.169_170fs
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