Varaico: Literature-Extracted Genetic Variants

Gene:NHLH1
Variant:p.L61V

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
Selected Variant
1 paper
NM_005598.4
p.L61V
c.181C>G
Surrounding Variants
1 paper
NM_005598.4
p.H60_L61delins
c.180_181delinsAA
1 paper
NM_005598.4
p.H60R
c.179A>G
1 paper
NM_005598.4
p.S62R
c.184A>C
1 paper
NM_005598.4
p.S62R
c.186C>A
1 paper
NM_005598.4
p.S62R
c.186C>G
1 paper
NM_005598.4
p.R55Q
c.164G>A
1 paper
NM_005598.4
p.R67W
c.199C>T
1 paper
NM_005598.4
p.G54S
c.160G>A
1 paper
NM_005598.4
p.E52*
c.154G>T
2 papers
NM_005598.4
p.R71C
c.211C>T
1 paper
NM_005598.4
p.E49V
c.146A>T
1 paper
NM_005598.4
p.T73I
c.218C>T
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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."