Varaico: Literature-Extracted Genetic Variants

Gene:APH1A
Variant:p.G38R

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.G38R
c.112G>A
Surrounding Variants
1 paper
NM_001077628.3
p.G38W
c.112G>T
1 paper
NM_001077628.3
p.G38R
c.112G>C
1 paper
NM_001077628.3
p.G38Splc
c.114-2A>C
1 paper
NM_001077628.3
p.F41L
c.121T>C
1 paper
NM_001077628.3
p.F41L
c.123C>G
1 paper
NM_001077628.3
p.F41L
c.123C>A
2 papers
NM_001077628.3
p.W42C
c.126G>T
1 paper
NM_001077628.3
p.W42*
c.126G>A
1 paper
NM_001077628.3
p.V44F
c.130G>T
1 paper
NM_001077628.3
p.V44I
c.130G>A
1 paper
NM_001077628.3
p.S45A
c.133T>G
1 paper
NM_001077628.3
p.L47F
c.139C>T
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