Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.Q40K

HAP1

233 papers

RefSeq Summary

Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a ...

Gene Aliases

HGNC Name

huntingtin associated protein 1

HGNC Previous Symbol

HAP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_177977.3
p.Q40K
c.118C>A
Surrounding Variants
1 paper
NM_177977.3
p.Q40*
c.118C>T
1 paper
NM_177977.3
p.Q40R
c.119A>G
1 paper
NM_177977.3
p.Q40H
c.120G>T
1 paper
NM_177977.3
p.A39S
c.115G>T
1 paper
NM_177977.3
p.S38C
c.113C>G
1 paper
NM_177977.3
p.S38Y
c.113C>A
1 paper
NM_177977.3
p.S38A
c.112T>G
1 paper
NM_177977.3
p.S38T
c.112T>A
2 papers
NM_177977.3
p.Q42L
c.125A>T
1 paper
NM_177977.3
p.Q42R
c.125A>G
1 paper
NM_177977.3
p.Q42P
c.125A>C
1 paper
NM_177977.3
p.Q42H
c.126G>T
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