Varaico: Literature-Extracted Genetic Variants

Gene:NHLH2
Variant:p.R79C

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
Selected Variant
2 papers
NM_005599.3
p.R79C
c.235C>T
Surrounding Variants
1 paper
NM_005599.3
p.Y78C
c.233A>G
1 paper
NM_005599.3
p.Y78H
c.232T>C
1 paper
NM_005599.3
p.A76S
c.226G>T
2 papers
NM_005599.3
p.A83P
c.247G>C
1 paper
NM_005599.3
p.A83T
c.247G>A
1 paper
NM_005599.3
p.A74P
c.220G>C
1 paper
NM_005599.3
p.R71H
c.212G>A
1 paper
NM_005599.3
p.R71G
c.211C>G
1 paper
NM_005599.3
p.R70G
c.208C>G
1 paper
NM_005599.3
p.R69L
c.206G>T
1 paper
NM_005599.3
p.R69H
c.206G>A
1 paper
NM_005599.3
p.R89C
c.265C>T
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