Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.D14H

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.D14H
c.40G>C
Surrounding Variants
1 paper
NM_000474.4
p.D14N
c.40G>A
1 paper
NM_000474.4
p.P12P
c.36G>A
1 paper
NM_000474.4
p.P12delins
c.35_36delinsTA
1 paper
NM_000474.4
p.P12L
c.35C>T
2 papers
NM_000474.4
p.S11delFs
c.31_32delGA
1 paper
NM_000474.4
p.S16R
c.48C>G
1 paper
NM_000474.4
p.S11fs
c.31_32fs
1 paper
NM_000474.4
p.L17Q
c.50T>A
1 paper
NM_000474.4
p.L17L
c.51G>C
1 paper
NM_000474.4
p.S18I
c.53G>T
1 paper
NM_000474.4
p.S18delFs
c.52delT
1 paper
NM_000474.4
p.P9_V10ins1
c.27_28insGGC
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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."