Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.K133_S140insFs

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
2 papers
NM_000474.4
p.K133_S140insFs
c.397_418dup22
Surrounding Variants
1 paper
NM_000474.4
p.S140L
c.419C>T
2 papers
NM_000474.4
p.S140*
c.419C>A
5 papers
NM_000474.4
p.K133_P139ins2
c.397_417dup21
1 paper
NM_000474.4
p.R132_P139insFs
c.396_417dup22
2 papers
NM_000474.4
p.S140P
c.418T>C
1 paper
NM_000474.4
p.S140T
c.418T>A
1 paper
NM_000474.4
p.S140fs
c.418_419fs
6 papers
NM_000474.4
p.D141Y
c.421G>T
1 paper
NM_000474.4
p.I134_S140ins2
c.400_420dup21
2 papers
NM_000474.4
p.D141H
c.421G>C
3 papers
NM_000474.4
p.D141N
c.421G>A
6 papers
NM_000474.4
p.R132_P139ins2
c.396_416dup21
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