Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.S6_S7insT

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.S6_S7insT
c.16_20ins3
Surrounding Variants
1 paper
NM_000474.4
p.S6S
c.18C>T
1 paper
NM_000474.4
p.S6delFs
c.17delG
1 paper
NM_000474.4
p.D4delFs
c.11delT
1 paper
NM_000474.4
p.S8*
c.23C>A
1 paper
NM_000474.4
p.Q3R
c.8A>G
4 papers
NM_000474.4
p.Q3*
c.7C>T
1 paper
NM_000474.4
p.P9S
c.25C>T
1 paper
NM_000474.4
p.Q3K
c.7C>A
1 paper
NM_000474.4
p.M2_Q3insFs
c.6_7insT
1 paper
NM_000474.4
p.P9_V10ins1
c.27_28insGGC
1 paper
NM_000474.4
p.M2V
c.4A>G
1 paper
NM_000474.4
p.M2L
c.4A>C
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