Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.P3Q

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.P3Q
c.8C>A
Surrounding Variants
1 paper
NM_177977.3
p.K4M
c.11A>T
4 papers
NM_177977.3
p.K4R
c.11A>G
1 paper
NM_177977.3
p.C10R
c.28T>C
1 paper
NM_177977.3
p.G16R
c.46G>A
1 paper
NM_177977.3
p.D19G
c.56A>G
1 paper
NM_177977.3
p.A21P
c.61G>C
1 paper
NM_177977.3
p.A22S
c.64G>T
1 paper
NM_177977.3
p.A22G
c.65C>G
1 paper
NM_177977.3
p.L23L
c.69C>T
1 paper
NM_177977.3
p.T24fs
c.70_71fs
1 paper
NM_177977.3
p.A26G
c.77C>G
1 paper
NM_177977.3
p.S30*
c.89C>A
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