Varaico: Literature-Extracted Genetic Variants

Gene:NHLH2

NHLH2

16 papers

Pfam Domains

HLHaa 78–130UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

nescient helix-loop-helix 2

HGNC Previous Symbol

HEN2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
2 papers
NM_005599.3
p.V31M
c.91G>A
2 papers
NM_005599.3
p.R79C
c.235C>T
2 papers
NM_005599.3
p.A83P
c.247G>C
1 paper
NM_005599.3
p.A9S
c.25G>T
1 paper
NM_005599.3
p.A9V
c.26C>T
1 paper
NM_005599.3
p.D28V
c.83A>T
1 paper
NM_005599.3
p.S36W
c.107C>G
1 paper
NM_005599.3
p.P40A
c.118C>G
1 paper
NM_005599.3
p.P40R
c.119C>G
1 paper
NM_005599.3
p.Y57delFs
c.171delG
1 paper
NM_005599.3
p.P60Q
c.179C>A
1 paper
NM_005599.3
p.R65S
c.193C>A
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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."