Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.Y103delFs

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.Y103delFs
c.309delG
Surrounding Variants
7 papers
NM_000474.4
p.E104*
c.310G>T
22 papers
NM_000474.4
p.Y103*
c.309C>G
5 papers
NM_000474.4
p.Y103insFs
c.308_309insA
20 papers
NM_000474.4
p.Y103*
c.309C>A
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.E105Q
c.313G>C
1 paper
NM_000474.4
p.Y103fs
c.307_308fs
2 papers
NM_000474.4
p.S102S
c.306T>A
1 paper
NM_000474.4
p.E105_L106insFs
c.315_316insCC
1 paper
NM_000474.4
p.S102insFs
c.304_305insCC
1 paper
NM_000474.4
p.L106L
c.318G>C
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