Varaico: Literature-Extracted Genetic Variants

Gene:VAPB
Variant:p.L161W

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.L161W
c.482T>G
Surrounding Variants
1 paper
NM_004738.5
p.D162E
c.486T>A
1 paper
NM_004738.5
p.D162E
c.486T>G
1 paper
NM_004738.5
p.D163Y
c.487G>T
1 paper
NM_004738.5
p.S158R
c.474T>A
1 paper
NM_004738.5
p.S158R
c.474T>G
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.472A>C
2 papers
NM_004738.5
p.E165V
c.494A>T
1 paper
NM_004738.5
p.I152T
c.455T>C
16 papers
NM_004738.5
p.M170I
c.510G>A
15 papers
NM_004738.5
p.M170I
c.510G>C
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