Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.R154insFs

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
4 papers
NM_000474.4
p.R154insFs
c.461_462insA
Surrounding Variants
2 papers
NM_000474.4
p.R154K
c.461G>A
1 paper
NM_000474.4
p.R154S
c.462G>T
1 paper
NM_000474.4
p.A152_R154delFs
c.455_461del7
6 papers
NM_000474.4
p.R154G
c.460A>G
1 paper
NM_000474.4
p.L151_A153delFs
c.452_458del7
1 paper
NM_000474.4
p.A153V
c.458C>T
1 paper
NM_000474.4
p.D141_A152del12
c.421_455del36
1 paper
NM_000474.4
p.Y155C
c.464A>G
7 papers
NM_000474.4
p.Y155*
c.465C>G
7 papers
NM_000474.4
p.Y155*
c.465C>A
1 paper
NM_000474.4
p.A152A
c.456G>A
1 paper
NM_000474.4
p.K145_A152delFs
c.433_455del23
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."