Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.P69L

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.P69L
c.206C>T
Surrounding Variants
1 paper
NM_000474.4
p.A70T
c.208G>A
1 paper
NM_000474.4
p.S68T
c.203G>C
1 paper
NM_000474.4
p.G67_P69del0
c.199_207del9
1 paper
NM_000474.4
p.S68fs
c.202_203fs
4 papers
NM_000474.4
p.Q71*
c.211C>T
1 paper
NM_000474.4
p.D64_G67insFs
c.190_200dup11
1 paper
NM_000474.4
p.G67delFs
c.200delC
1 paper
NM_000474.4
p.S68_A70del3
c.202_209del9
2 papers
NM_000474.4
p.K73R
c.218A>G
8 papers
NM_000474.4
p.E65*
c.193G>T
2 papers
NM_000474.4
p.R74delFs
c.220delG
1 paper
NM_000474.4
p.G75R
c.223G>C
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