Varaico: Literature-Extracted Genetic Variants

Gene:HAP1

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
1–12 of 367 variants
9 papers
NM_177977.3
p.T441M
c.1322C>T
5 papers
NM_177977.3
p.S58T
c.172T>A
4 papers
NM_177977.3
p.K4R
c.11A>G
3 papers
NM_177977.3
p.W104*
c.311G>A
3 papers
NM_177977.3
p.S357L
c.1070C>T
3 papers
NM_177977.3
p.L408F
c.1224G>T
3 papers
NM_177977.3
p.L408F
c.1224G>C
2 papers
NM_177977.3
p.E36K
c.106G>A
2 papers
NM_177977.3
p.Q42L
c.125A>T
2 papers
NM_177977.3
p.D92V
c.275A>T
2 papers
NM_177977.3
p.P97L
c.290C>T
2 papers
NM_177977.3
p.P103L
c.308C>T
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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."