Varaico: Literature-Extracted Genetic Variants

Gene:APH1B
Variant:p.L93delFs

APH1B

77 papers

RefSeq Summary

This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing ...

Pfam Domains

Aph-1aa 4–234UCSCAph-1 protein

Gene Aliases

HGNC Name

aph-1B gamma-secretase subunit

HGNC Alias Symbols

PSFL; APH-1B; DKFZp564D0372

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031301.4
p.L93delFs
c.279delC
Surrounding Variants
1 paper
NM_031301.4
p.L93H
c.278T>A
1 paper
NM_031301.4
p.R87Q
c.260G>A
1 paper
NM_031301.4
p.R87*
c.259C>T
1 paper
NM_031301.4
p.E84A
c.251A>C
1 paper
NM_031301.4
p.E84_M85insT
c.250_254ins3
1 paper
NM_031301.4
p.G75R
c.223G>A
1 paper
NM_031301.4
p.I73fs
c.217_218fs
1 paper
NM_031301.4
p.L71V
c.211C>G
1 paper
NM_031301.4
p.P66_T67insG
c.196_200ins3
1 paper
NM_031301.4
p.V44M
c.130G>A
2 papers
NM_031301.4
p.G38R
c.112G>A
2 papers
NM_031301.4
p.G38R
c.112G>C
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