Varaico: Literature-Extracted Genetic Variants

Gene:NHLH2
Variant:p.A92T

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.A92T
c.274G>A
Surrounding Variants
1 paper
NM_005599.3
p.E91K
c.271G>A
1 paper
NM_005599.3
p.N94T
c.281A>C
1 paper
NM_005599.3
p.R89L
c.266G>T
1 paper
NM_005599.3
p.R89C
c.265C>T
1 paper
NM_005599.3
p.L95W
c.284T>G
1 paper
NM_005599.3
p.L95*
c.284T>A
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.R101H
c.302G>A
1 paper
NM_005599.3
p.K102T
c.305A>C
1 paper
NM_005599.3
p.L104R
c.311T>G
2 papers
NM_005599.3
p.R79C
c.235C>T
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