Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.K76Q

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.K76Q
c.226A>C
Surrounding Variants
1 paper
NM_000474.4
p.K76R
c.227A>G
1 paper
NM_000474.4
p.K76T
c.227A>C
1 paper
NM_000474.4
p.G75R
c.223G>C
1 paper
NM_000474.4
p.K77fs
c.229_230fs
2 papers
NM_000474.4
p.K77R
c.230A>G
2 papers
NM_000474.4
p.R74delFs
c.220delG
6 papers
NM_000474.4
p.K77delFs
c.230delT
6 papers
NM_000474.4
p.S78P
c.232T>C
1 paper
NM_000474.4
p.K77_S78Fs
c.230_232delinsGCFs
2 papers
NM_000474.4
p.K73R
c.218A>G
1 paper
NM_000474.4
p.A79T
c.235G>A
1 paper
NM_000474.4
p.R74_A79del6
c.220_236del18
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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."