Varaico: Literature-Extracted Genetic Variants

Gene:VAPB
Variant:p.D101G

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
2 papers
NM_004738.5
p.D101G
c.302A>G
Surrounding Variants
1 paper
NM_004738.5
p.D101N
c.301G>A
1 paper
NM_004738.5
p.D101H
c.301G>C
1 paper
NM_004738.5
p.D101Y
c.301G>T
1 paper
NM_004738.5
p.A104T
c.310G>A
2 papers
NM_004738.5
p.T97A
c.289A>G
10 papers
NM_004738.5
p.V105V
c.315A>T
1 paper
NM_004738.5
p.A95G
c.284C>G
2 papers
NM_004738.5
p.A95V
c.284C>T
1 paper
NM_004738.5
p.A95T
c.283G>A
1 paper
NM_004738.5
p.V90_Q91insFs
c.270_271insG
1 paper
NM_004738.5
p.M89L
c.265A>C
1 paper
NM_004738.5
p.M89L
c.265A>T
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