Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.S58T

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
5 papers
NM_177977.3
p.S58T
c.172T>A
Surrounding Variants
1 paper
NM_177977.3
p.G57V
c.170G>T
1 paper
NM_177977.3
p.G57A
c.170G>C
1 paper
NM_177977.3
p.G57E
c.170G>A
1 paper
NM_177977.3
p.G57*
c.169G>T
1 paper
NM_177977.3
p.G57R
c.169G>C
1 paper
NM_177977.3
p.G57R
c.169G>A
1 paper
NM_177977.3
p.Q59*
c.175C>T
1 paper
NM_177977.3
p.Q59E
c.175C>G
1 paper
NM_177977.3
p.Q59K
c.175C>A
1 paper
NM_177977.3
p.Q59H
c.177G>T
1 paper
NM_177977.3
p.Q59H
c.177G>C
1 paper
NM_177977.3
p.Q59Q
c.177G>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."