Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.V93V

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.V93V
c.279C>A
Surrounding Variants
1 paper
NM_177977.3
p.V93V
c.279C>T
1 paper
NM_177977.3
p.V93V
c.279C>G
1 paper
NM_177977.3
p.V93F
c.277G>T
1 paper
NM_177977.3
p.V93L
c.277G>C
1 paper
NM_177977.3
p.V93I
c.277G>A
1 paper
NM_177977.3
p.D92E
c.276T>G
1 paper
NM_177977.3
p.D92E
c.276T>A
1 paper
NM_177977.3
p.R94R
c.282G>T
1 paper
NM_177977.3
p.R94R
c.282G>C
1 paper
NM_177977.3
p.R94R
c.282G>A
2 papers
NM_177977.3
p.D92V
c.275A>T
1 paper
NM_177977.3
p.D92G
c.275A>G
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