Varaico: Literature-Extracted Genetic Variants

Gene:APH1A

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
1–12 of 112 variants
4 papers
NM_001077628.3
p.G122D
c.365G>A
3 papers
NM_001077628.3
p.G38R
c.112G>A
3 papers
NM_001077628.3
p.E99D
c.297G>T
3 papers
NM_001077628.3
p.E99D
c.297G>C
2 papers
NM_001077628.3
p.W42C
c.126G>T
2 papers
NM_001077628.3
p.D61N
c.181G>A
2 papers
NM_001077628.3
p.G122A
c.365G>C
2 papers
NM_001077628.3
p.R237*
c.709C>T
1 paper
NM_001077628.3
p.M1V
c.1A>G
1 paper
NM_001077628.3
p.M1T
c.2T>C
1 paper
NM_001077628.3
p.M1I
c.3G>T
1 paper
NM_001077628.3
p.V5V
c.15G>A
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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."