Varaico: Literature-Extracted Genetic Variants

Gene:APH1A
Variant:p.D28_P29insFs

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.D28_P29insFs
c.84_85insT
Surrounding Variants
1 paper
NM_001077628.3
p.P29L
c.86C>T
1 paper
NM_001077628.3
p.G27G
c.81G>C
1 paper
NM_001077628.3
p.L30F
c.88C>T
1 paper
NM_001077628.3
p.R31C
c.91C>T
1 paper
NM_001077628.3
p.T24I
c.71C>T
1 paper
NM_001077628.3
p.L22_I23insFs
c.66_67insG
1 paper
NM_001077628.3
p.F21L
c.63C>G
1 paper
NM_001077628.3
p.F21L
c.63C>A
1 paper
NM_001077628.3
p.F21L
c.61T>C
1 paper
NM_001077628.3
p.G38W
c.112G>T
3 papers
NM_001077628.3
p.G38R
c.112G>A
1 paper
NM_001077628.3
p.P16L
c.47C>T
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