Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.R69R

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.R69R
c.207C>A
Surrounding Variants
1 paper
NM_177977.3
p.R69R
c.207C>T
1 paper
NM_177977.3
p.R69R
c.207C>G
1 paper
NM_177977.3
p.R69L
c.206G>T
1 paper
NM_177977.3
p.R69P
c.206G>C
1 paper
NM_177977.3
p.R69H
c.206G>A
1 paper
NM_177977.3
p.R69C
c.205C>T
1 paper
NM_177977.3
p.R69G
c.205C>G
1 paper
NM_177977.3
p.R69S
c.205C>A
1 paper
NM_177977.3
p.P70P
c.210G>T
1 paper
NM_177977.3
p.P70P
c.210G>C
1 paper
NM_177977.3
p.P70P
c.210G>A
1 paper
NM_177977.3
p.A68V
c.203C>T
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."