Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.P97L

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
2 papers
NM_177977.3
p.P97L
c.290C>T
Surrounding Variants
1 paper
NM_177977.3
p.P97R
c.290C>G
1 paper
NM_177977.3
p.P97H
c.290C>A
1 paper
NM_177977.3
p.P97P
c.291C>T
1 paper
NM_177977.3
p.P97S
c.289C>T
1 paper
NM_177977.3
p.P97P
c.291C>G
1 paper
NM_177977.3
p.P97A
c.289C>G
1 paper
NM_177977.3
p.P97P
c.291C>A
1 paper
NM_177977.3
p.P97T
c.289C>A
1 paper
NM_177977.3
p.M96I
c.288G>T
1 paper
NM_177977.3
p.M96I
c.288G>C
1 paper
NM_177977.3
p.M96I
c.288G>A
1 paper
NM_177977.3
p.M96K
c.287T>A
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