Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.S100S

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.S100S
c.300G>T
Surrounding Variants
1 paper
NM_177977.3
p.S100S
c.300G>C
1 paper
NM_177977.3
p.S100S
c.300G>A
1 paper
NM_177977.3
p.S100L
c.299C>T
1 paper
NM_177977.3
p.S100W
c.299C>G
1 paper
NM_177977.3
p.S100*
c.299C>A
1 paper
NM_177977.3
p.S100A
c.298T>G
1 paper
NM_177977.3
p.A102V
c.305C>T
1 paper
NM_177977.3
p.A102G
c.305C>G
1 paper
NM_177977.3
p.A102E
c.305C>A
1 paper
NM_177977.3
p.A102A
c.306G>T
1 paper
NM_177977.3
p.A102A
c.306G>C
1 paper
NM_177977.3
p.A102A
c.306G>A
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