Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.Q27_Q28del0

TWIST1

311 papers

RefSeq Summary

This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DN...

Pfam Domains

HLHaa 109–160UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

twist family bHLH transcription factor 1

HGNC Previous Symbols

ACS3; BPES3; CRS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000474.4
p.Q27_Q28del0
c.79_84del6
Surrounding Variants
1 paper
NM_000474.4
p.P29L
c.86C>T
1 paper
NM_000474.4
p.P29insFs
c.86_87insG
1 paper
NM_000474.4
p.P29Q
c.86C>A
1 paper
NM_000474.4
p.P30A
c.88C>G
1 paper
NM_000474.4
p.P30Q
c.89C>A
1 paper
NM_000474.4
p.Q28insFs
c.82dupC
9 papers
NM_000474.4
p.Q28*
c.82C>T
1 paper
NM_000474.4
p.Q28K
c.82C>A
2 papers
NM_000474.4
p.Q27_Q28delins
c.81_82delinsTT
1 paper
NM_000474.4
p.D25_Q27del0
c.74_79del6
2 papers
NM_000474.4
p.Q27*
c.79C>T
1 paper
NM_000474.4
p.S31insFs
c.92_93insG
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