Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.S30*

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.S30*
c.89C>A
Surrounding Variants
1 paper
NM_177977.3
p.T24_S30delFs
c.71_89del19
1 paper
NM_177977.3
p.A26G
c.77C>G
1 paper
NM_177977.3
p.E36Q
c.106G>C
2 papers
NM_177977.3
p.E36K
c.106G>A
1 paper
NM_177977.3
p.T24fs
c.70_71fs
1 paper
NM_177977.3
p.L23L
c.69C>T
1 paper
NM_177977.3
p.P37R
c.110C>G
1 paper
NM_177977.3
p.S38A
c.112T>G
1 paper
NM_177977.3
p.S38T
c.112T>A
1 paper
NM_177977.3
p.S38C
c.113C>G
1 paper
NM_177977.3
p.A22G
c.65C>G
1 paper
NM_177977.3
p.S38Y
c.113C>A
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