Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.G114S

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.G114S
c.340G>A
Surrounding Variants
1 paper
NM_177977.3
p.G114C
c.340G>T
1 paper
NM_177977.3
p.G114R
c.340G>C
1 paper
NM_177977.3
p.P112L
c.335C>T
1 paper
NM_177977.3
p.S115S
c.345C>G
1 paper
NM_177977.3
p.S115S
c.345C>A
2 papers
NM_177977.3
p.R116W
c.346C>T
1 paper
NM_177977.3
p.G111V
c.332G>T
1 paper
NM_177977.3
p.G111A
c.332G>C
1 paper
NM_177977.3
p.G111E
c.332G>A
1 paper
NM_177977.3
p.A117_T118insFs
c.351_352insG
1 paper
NM_177977.3
p.Q110L
c.329A>T
1 paper
NM_177977.3
p.Q110R
c.329A>G
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