Varaico: Literature-Extracted Genetic Variants

Gene:APH1A
Variant:p.R237*

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
2 papers
NM_001077628.3
p.R237*
c.709C>T
Surrounding Variants
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
1 paper
NM_001077628.3
p.L244S
c.731T>C
1 paper
NM_001077628.3
p.P216S
c.646C>T
1 paper
NM_001077628.3
p.L215P
c.644T>C
1 paper
NM_001077628.3
p.S213R
c.639C>G
1 paper
NM_001077628.3
p.S213R
c.639C>A
1 paper
NM_001077628.3
p.S213I
c.638G>T
1 paper
NM_001077628.3
p.S213R
c.637A>C
1 paper
NM_001077628.3
p.W209L
c.626G>T
1 paper
NM_001077628.3
p.C245W
c.735C>G
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