Varaico: Literature-Extracted Genetic Variants

Gene:APH1A
Variant:p.E84_V85insT

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.E84_V85insT
c.250_254ins3
Surrounding Variants
1 paper
NM_001077628.3
p.E84V
c.251A>T
1 paper
NM_001077628.3
p.Q83L
c.248A>T
1 paper
NM_001077628.3
p.R87C
c.259C>T
1 paper
NM_001077628.3
p.R87L
c.260G>T
1 paper
NM_001077628.3
p.R87H
c.260G>A
1 paper
NM_001077628.3
p.F88L
c.262T>C
1 paper
NM_001077628.3
p.F88L
c.264T>G
1 paper
NM_001077628.3
p.F88L
c.264T>A
1 paper
NM_001077628.3
p.S79C
c.236C>G
1 paper
NM_001077628.3
p.Y90H
c.268T>C
1 paper
NM_001077628.3
p.G75S
c.223G>A
1 paper
NM_001077628.3
p.L93L
c.279G>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."