Varaico: Literature-Extracted Genetic Variants

Gene:VAPB
Variant:p.K17E

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
6 papers
NM_004738.5
p.K17E
c.49A>G
Surrounding Variants
9 papers
NM_004738.5
p.K17I
c.50A>T
2 papers
NM_004738.5
p.L16H
c.47T>A
1 paper
NM_004738.5
p.E15A
c.44A>C
2 papers
NM_004738.5
p.R19L
c.56G>T
1 paper
NM_004738.5
p.R19R
c.57A>G
1 paper
NM_004738.5
p.Q13Q
c.39G>A
2 papers
NM_004738.5
p.G20Splc
c.58+5G>A
1 paper
NM_004738.5
p.P12S
c.34C>T
1 paper
NM_004738.5
p.E11Q
c.31G>C
2 papers
NM_004738.5
p.L8Q
c.23T>A
1 paper
NM_004738.5
p.L8V
c.22C>G
1 paper
NM_004738.5
p.Q6insFs
c.18dupG
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