Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.R139*

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.R139*
c.415C>T
Surrounding Variants
1 paper
NM_177977.3
p.V136G
c.407T>G
1 paper
NM_177977.3
p.V136A
c.407T>C
1 paper
NM_177977.3
p.G144_P145del0
c.430_435del6
1 paper
NM_177977.3
p.G127D
c.380G>A
1 paper
NM_177977.3
p.I151T
c.452T>C
1 paper
NM_177977.3
p.A126T
c.376G>A
1 paper
NM_177977.3
p.K124K
c.372G>A
1 paper
NM_177977.3
p.E156G
c.467A>G
1 paper
NM_177977.3
p.G119G
c.357C>G
1 paper
NM_177977.3
p.G119G
c.357C>A
1 paper
NM_177977.3
p.A117_T118insFs
c.351_352insG
2 papers
NM_177977.3
p.R116W
c.346C>T
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