Varaico: Literature-Extracted Genetic Variants

Gene:APH1A
Variant:p.S257A

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.S257A
c.769T>G
Surrounding Variants
1 paper
NM_001077628.3
p.Y256S
c.767A>C
1 paper
NM_001077628.3
p.I261V
c.781A>G
1 paper
NM_001077628.3
p.R252R
c.756G>T
1 paper
NM_001077628.3
p.D250G
c.749A>G
1 paper
NM_001077628.3
p.*266R
c.796T>A
1 paper
NM_001077628.3
p.*266S
c.797G>C
1 paper
NM_001077628.3
p.C245W
c.735C>G
1 paper
NM_001077628.3
p.L244S
c.731T>C
2 papers
NM_001077628.3
p.R237*
c.709C>T
1 paper
NM_001077628.3
p.G233R
c.697G>C
1 paper
NM_001077628.3
p.G233R
c.697G>A
1 paper
NM_001077628.3
p.F229_I230insFs
c.687_688insCC
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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."