Varaico: Literature-Extracted Genetic Variants

Gene:VAPB
Variant:p.F231L

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.F231L
c.691T>C
Surrounding Variants
1 paper
NM_004738.5
p.F231L
c.693C>A
1 paper
NM_004738.5
p.F231L
c.693C>G
33 papers
NM_004738.5
p.V234I
c.700G>A
1 paper
NM_004738.5
p.I237V
c.709A>G
1 paper
NM_004738.5
p.R223W
c.667C>T
1 paper
NM_004738.5
p.T222_R223ins1
c.666_667insGGC
1 paper
NM_004738.5
p.T222A
c.664A>G
1 paper
NM_004738.5
p.L220F
c.658C>T
1 paper
NM_004738.5
p.G219V
c.656G>T
1 paper
NM_004738.5
p.E217G
c.650A>G
1 paper
NM_004738.5
p.*244*
c.732G>A
1 paper
NM_004738.5
p.K216R
c.647A>G
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