Varaico: Literature-Extracted Genetic Variants

Gene:VAPB
Variant:p.K31K

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
22 papers
NM_004738.5
p.K31K
c.93G>A
Surrounding Variants
7 papers
NM_004738.5
p.K31N
c.93G>C
1 paper
NM_004738.5
p.N29S
c.86A>G
1 paper
NM_004738.5
p.V26V
c.78C>T
1 paper
NM_004738.5
p.D37N
c.109G>A
2 papers
NM_004738.5
p.D37H
c.109G>C
1 paper
NM_004738.5
p.D37E
c.111C>A
1 paper
NM_004738.5
p.D37E
c.111C>G
1 paper
NM_004738.5
p.R38*
c.112C>T
1 paper
NM_004738.5
p.V25insFs
c.74_75insT
1 paper
NM_004738.5
p.T23_D24insFs
c.69_70insG
2 papers
NM_004738.5
p.T23I
c.68C>T
1 paper
NM_004738.5
p.T23A
c.67A>G
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