Varaico: Literature-Extracted Genetic Variants

Gene:NHLH2
Variant:p.P105S

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.P105S
c.313C>T
Surrounding Variants
1 paper
NM_005599.3
p.L104R
c.311T>G
1 paper
NM_005599.3
p.K102T
c.305A>C
1 paper
NM_005599.3
p.P108T
c.322C>A
1 paper
NM_005599.3
p.R101H
c.302G>A
1 paper
NM_005599.3
p.P109A
c.325C>G
1 paper
NM_005599.3
p.K111N
c.333G>T
1 paper
NM_005599.3
p.K111N
c.333G>C
1 paper
NM_005599.3
p.L113F
c.337C>T
1 paper
NM_005599.3
p.S114P
c.340T>C
1 paper
NM_005599.3
p.S114Y
c.341C>A
1 paper
NM_005599.3
p.L95W
c.284T>G
1 paper
NM_005599.3
p.L95*
c.284T>A
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