Varaico: Literature-Extracted Genetic Variants

Gene:NHLH2
Variant:p.S36W

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
1 paper
NM_005599.3
p.S36W
c.107C>G
Surrounding Variants
1 paper
NM_005599.3
p.P40A
c.118C>G
1 paper
NM_005599.3
p.P40R
c.119C>G
2 papers
NM_005599.3
p.V31M
c.91G>A
1 paper
NM_005599.3
p.D28V
c.83A>T
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.A9V
c.26C>T
1 paper
NM_005599.3
p.A9S
c.25G>T
1 paper
NM_005599.3
p.R65S
c.193C>A
1 paper
NM_005599.3
p.R65L
c.194G>T
1 paper
NM_005599.3
p.R65H
c.194G>A
1 paper
NM_005599.3
p.E66V
c.197A>T
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