Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.M2_Q3insFs

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.M2_Q3insFs
c.6_7insT
Surrounding Variants
4 papers
NM_000474.4
p.Q3*
c.7C>T
1 paper
NM_000474.4
p.Q3K
c.7C>A
1 paper
NM_000474.4
p.Q3R
c.8A>G
1 paper
NM_000474.4
p.M2V
c.4A>G
1 paper
NM_000474.4
p.M2L
c.4A>C
1 paper
NM_000474.4
p.M1insFs
c.2dupT
1 paper
NM_000474.4
p.M1I
c.3G>A
2 papers
NM_000474.4
p.M1R
c.2T>G
1 paper
NM_000474.4
p.M1V
c.1A>G
1 paper
NM_000474.4
p.M1L
c.1A>C
1 paper
NM_000474.4
p.M1insFs
c.1_2insG
1 paper
NM_000474.4
p.D4delFs
c.11delT
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."