Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.E455G

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.E455G
c.1364A>G
Surrounding Variants
1 paper
NM_177977.3
p.M454I
c.1362G>T
1 paper
NM_177977.3
p.M454I
c.1362G>C
1 paper
NM_177977.3
p.M454I
c.1362G>A
1 paper
NM_177977.3
p.P450P
c.1350T>G
1 paper
NM_177977.3
p.R444S
c.1332G>T
1 paper
NM_177977.3
p.L443R
c.1328T>G
9 papers
NM_177977.3
p.T441M
c.1322C>T
1 paper
NM_177977.3
p.G430_L435del6
c.1288_1304del18
1 paper
NM_177977.3
p.E433A
c.1298A>C
1 paper
NM_177977.3
p.Q432K
c.1294C>A
3 papers
NM_177977.3
p.L408F
c.1224G>T
3 papers
NM_177977.3
p.L408F
c.1224G>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."