Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.A74P

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.A74P
c.220G>C
Surrounding Variants
1 paper
NM_177977.3
p.A74S
c.220G>T
1 paper
NM_177977.3
p.A74T
c.220G>A
1 paper
NM_177977.3
p.E73D
c.219G>T
1 paper
NM_177977.3
p.E73E
c.219G>A
1 paper
NM_177977.3
p.E73V
c.218A>T
1 paper
NM_177977.3
p.E73G
c.218A>G
1 paper
NM_177977.3
p.E73A
c.218A>C
1 paper
NM_177977.3
p.S72L
c.215C>T
1 paper
NM_177977.3
p.S72W
c.215C>G
1 paper
NM_177977.3
p.S72*
c.215C>A
1 paper
NM_177977.3
p.S72A
c.214T>G
1 paper
NM_177977.3
p.S72T
c.214T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."