Varaico: Literature-Extracted Genetic Variants

Gene:NHLH1

NHLH1

55 papers

RefSeq Summary

The helix-loop-helix (HLH) proteins are a family of putative transcription factors, some of which have been shown to play an important role in growth and development of a wide variety of tissues and s...

Pfam Domains

HLHaa 76–128UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

nescient helix-loop-helix 1

HGNC Previous Symbol

HEN1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
2 papers
NM_005598.4
p.G34S
c.100G>A
2 papers
NM_005598.4
p.G42W
c.124G>T
2 papers
NM_005598.4
p.R71C
c.211C>T
2 papers
NM_005598.4
p.R83*
c.247C>T
1 paper
NM_005598.4
p.L3F
c.7C>T
1 paper
NM_005598.4
p.D11insFs
c.31_32insG
1 paper
NM_005598.4
p.L12L
c.36G>A
1 paper
NM_005598.4
p.S17A
c.49T>G
1 paper
NM_005598.4
p.S17L
c.50C>T
1 paper
NM_005598.4
p.E20V
c.59A>T
1 paper
NM_005598.4
p.G29R
c.85G>C
1 paper
NM_005598.4
p.G31A
c.92G>C
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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."