Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.V50L

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.V50L
c.148G>T
Surrounding Variants
1 paper
NM_177977.3
p.V50L
c.148G>C
1 paper
NM_177977.3
p.V50I
c.148G>A
1 paper
NM_177977.3
p.R49I
c.146G>T
1 paper
NM_177977.3
p.R49K
c.146G>A
1 paper
NM_177977.3
p.G51*
c.151G>T
1 paper
NM_177977.3
p.G51R
c.151G>C
1 paper
NM_177977.3
p.G51R
c.151G>A
1 paper
NM_177977.3
p.Q48H
c.144G>T
1 paper
NM_177977.3
p.Q48Q
c.144G>A
1 paper
NM_177977.3
p.Q48*
c.142C>T
1 paper
NM_177977.3
p.Q48E
c.142C>G
1 paper
NM_177977.3
p.Q48K
c.142C>A
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