Varaico: Literature-Extracted Genetic Variants

Gene:APH1A
Variant:p.G130D

APH1A

69 papers

RefSeq Summary

This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains th...

Pfam Domains

Aph-1aa 4–235UCSCAph-1 protein

Gene Aliases

HGNC Name

aph-1A gamma-secretase subunit

HGNC Alias Symbols

APH-1A; CGI-78

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001077628.3
p.G130D
c.389G>A
Surrounding Variants
1 paper
NM_001077628.3
p.G130A
c.389G>C
1 paper
NM_001077628.3
p.V131A
c.392T>C
1 paper
NM_001077628.3
p.I128F
c.382A>T
1 paper
NM_001077628.3
p.I127V
c.379A>G
1 paper
NM_001077628.3
p.G126A
c.377G>C
1 paper
NM_001077628.3
p.I135V
c.403A>G
1 paper
NM_001077628.3
p.I135T
c.404T>C
2 papers
NM_001077628.3
p.G122A
c.365G>C
4 papers
NM_001077628.3
p.G122D
c.365G>A
1 paper
NM_001077628.3
p.L142H
c.425T>A
1 paper
NM_001077628.3
p.D152insFs
c.454dupG
1 paper
NM_001077628.3
p.L163delFs
c.487delG
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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."