Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.Y377Y

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.Y377Y
c.1131T>C
Surrounding Variants
1 paper
NM_177977.3
p.R379Q
c.1136G>A
1 paper
NM_177977.3
p.A385V
c.1154C>T
1 paper
NM_177977.3
p.V369A
c.1106T>C
1 paper
NM_177977.3
p.E368V
c.1103A>T
1 paper
NM_177977.3
p.Q390*
c.1168C>T
1 paper
NM_177977.3
p.A364A
c.1092T>G
3 papers
NM_177977.3
p.S357L
c.1070C>T
1 paper
NM_177977.3
p.R399Q
c.1196G>A
3 papers
NM_177977.3
p.L408F
c.1224G>T
3 papers
NM_177977.3
p.L408F
c.1224G>C
1 paper
NM_177977.3
p.Q432K
c.1294C>A
1 paper
NM_177977.3
p.E433A
c.1298A>C
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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."