Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.S62S

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.S62S
c.186G>C
Surrounding Variants
1 paper
NM_177977.3
p.S62S
c.186G>T
1 paper
NM_177977.3
p.S62S
c.186G>A
1 paper
NM_177977.3
p.E63K
c.187G>A
1 paper
NM_177977.3
p.L61L
c.183C>T
1 paper
NM_177977.3
p.L61L
c.183C>G
1 paper
NM_177977.3
p.L61L
c.183C>A
1 paper
NM_177977.3
p.L61F
c.181C>T
1 paper
NM_177977.3
p.L61V
c.181C>G
1 paper
NM_177977.3
p.L61I
c.181C>A
1 paper
NM_177977.3
p.A64A
c.192C>T
1 paper
NM_177977.3
p.A64A
c.192C>G
1 paper
NM_177977.3
p.A64A
c.192C>A
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