Varaico: Literature-Extracted Genetic Variants

Gene:VAPB

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
1–12 of 136 variants
267 papers
NM_004738.5
p.P56S
c.166C>T
59 papers
NM_004738.5
p.T46I
c.137C>T
33 papers
NM_004738.5
p.V234I
c.700G>A
22 papers
NM_004738.5
p.K31K
c.93G>A
21 papers
NM_004738.5
p.D130E
c.390T>G
20 papers
NM_004738.5
p.D130E
c.390T>A
16 papers
NM_004738.5
p.M170I
c.510G>A
15 papers
NM_004738.5
p.M170I
c.510G>C
15 papers
NM_004738.5
p.M170I
c.510G>T
11 papers
NM_004738.5
p.A145V
c.434C>T
10 papers
NM_004738.5
p.V105V
c.315A>T
9 papers
NM_004738.5
p.K17I
c.50A>T
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