Varaico: Literature-Extracted Genetic Variants

Gene:VAPB
Variant:p.A145V

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
11 papers
NM_004738.5
p.A145V
c.434C>T
Surrounding Variants
1 paper
NM_004738.5
p.A145G
c.434C>G
2 papers
NM_004738.5
p.A145T
c.433G>A
1 paper
NM_004738.5
p.T144I
c.431C>T
1 paper
NM_004738.5
p.T144A
c.430A>G
1 paper
NM_004738.5
p.K139R
c.416A>G
1 paper
NM_004738.5
p.I152T
c.455T>C
1 paper
NM_004738.5
p.S158R
c.472A>C
2 papers
NM_004738.5
p.S158N
c.473G>A
9 papers
NM_004738.5
p.S160del1
c.478_479delTCT
1 paper
NM_004738.5
p.S158R
c.474T>A
1 paper
NM_004738.5
p.S158R
c.474T>G
1 paper
NM_004738.5
p.L161W
c.482T>G
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