Varaico: Literature-Extracted Genetic Variants

Gene:APH1A
Variant:p.M117I

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.M117I
c.351G>A
Surrounding Variants
1 paper
NM_001077628.3
p.M117I
c.351G>T
1 paper
NM_001077628.3
p.M117I
c.351G>C
1 paper
NM_001077628.3
p.R115_M117delFs
c.344_351del8
1 paper
NM_001077628.3
p.I114F
c.340A>T
1 paper
NM_001077628.3
p.S110A
c.328T>G
1 paper
NM_001077628.3
p.D107D
c.321C>T
1 paper
NM_001077628.3
p.S103L
c.308C>T
1 paper
NM_001077628.3
p.S103W
c.308C>G
1 paper
NM_001077628.3
p.S103A
c.307T>G
1 paper
NM_001077628.3
p.S103P
c.307T>C
3 papers
NM_001077628.3
p.E99D
c.297G>T
3 papers
NM_001077628.3
p.E99D
c.297G>C
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