Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.G90_S99del10

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.G90_S99del10
c.268_296del30
Surrounding Variants
1 paper
NM_000474.4
p.S99G
c.295A>G
1 paper
NM_000474.4
p.S102insFs
c.304_305insCC
1 paper
NM_000474.4
p.G97delFs
c.291delG
1 paper
NM_000474.4
p.G97_G98ins5
c.291_292ins15
2 papers
NM_000474.4
p.S102S
c.306T>A
1 paper
NM_000474.4
p.G97D
c.290G>A
1 paper
NM_000474.4
p.Y103fs
c.307_308fs
1 paper
NM_000474.4
p.Y103C
c.308A>G
1 paper
NM_000474.4
p.S102_Y103delFs
c.306_307delAA
1 paper
NM_000474.4
p.G96V
c.287G>T
22 papers
NM_000474.4
p.Y103*
c.309C>G
5 papers
NM_000474.4
p.Y103insFs
c.308_309insA
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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."