Varaico: Literature-Extracted Genetic Variants

Gene:VAPB
Variant:p.L114P

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.L114P
c.341T>C
Surrounding Variants
1 paper
NM_004738.5
p.L114V
c.340C>G
2 papers
NM_004738.5
p.L114F
c.340C>T
1 paper
NM_004738.5
p.D116H
c.346G>C
1 paper
NM_004738.5
p.D116D
c.348T>C
2 papers
NM_004738.5
p.P111L
c.332C>T
1 paper
NM_004738.5
p.K110E
c.328A>G
1 paper
NM_004738.5
p.L125M
c.373T>A
1 paper
NM_004738.5
p.E128V
c.383A>T
20 papers
NM_004738.5
p.D130E
c.390T>A
21 papers
NM_004738.5
p.D130E
c.390T>G
1 paper
NM_004738.5
p.K139R
c.416A>G
1 paper
NM_004738.5
p.T144A
c.430A>G
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