Varaico: Literature-Extracted Genetic Variants

Gene:VAPB
Variant:p.M89L

VAPB

530 papers

RefSeq Summary

The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This pro...

Pfam Domains

Motile_Spermaa 7–113UCSCMSP (Major sperm protein) domain

Gene Aliases

HGNC Name

VAMP associated protein B and C

HGNC Alias Symbols

VAP-B; VAP-C; ALS8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004738.5
p.M89L
c.265A>C
Surrounding Variants
1 paper
NM_004738.5
p.M89L
c.265A>T
1 paper
NM_004738.5
p.F88insFs
c.262_263insG
1 paper
NM_004738.5
p.V90_Q91insFs
c.270_271insG
1 paper
NM_004738.5
p.S84R
c.252T>A
1 paper
NM_004738.5
p.S84C
c.250A>T
1 paper
NM_004738.5
p.A95T
c.283G>A
1 paper
NM_004738.5
p.A95G
c.284C>G
2 papers
NM_004738.5
p.A95V
c.284C>T
2 papers
NM_004738.5
p.T97A
c.289A>G
1 paper
NM_004738.5
p.N81D
c.241A>G
1 paper
NM_004738.5
p.P80R
c.239C>G
1 paper
NM_004738.5
p.D79N
c.235G>A
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