Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.S56F

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.S56F
c.167C>T
Surrounding Variants
1 paper
NM_177977.3
p.S56C
c.167C>G
1 paper
NM_177977.3
p.S56insFs
c.166dupT
1 paper
NM_177977.3
p.S56Y
c.167C>A
1 paper
NM_177977.3
p.G57*
c.169G>T
1 paper
NM_177977.3
p.G57R
c.169G>C
1 paper
NM_177977.3
p.G57R
c.169G>A
1 paper
NM_177977.3
p.G57V
c.170G>T
1 paper
NM_177977.3
p.G57A
c.170G>C
1 paper
NM_177977.3
p.G57E
c.170G>A
5 papers
NM_177977.3
p.S58T
c.172T>A
1 paper
NM_177977.3
p.Q59*
c.175C>T
1 paper
NM_177977.3
p.Q59E
c.175C>G
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