Varaico: Literature-Extracted Genetic Variants

Gene:VAPB
Variant:p.T214A

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.T214A
c.640A>G
Surrounding Variants
1 paper
NM_004738.5
p.T214T
c.642T>G
1 paper
NM_004738.5
p.K216R
c.647A>G
1 paper
NM_004738.5
p.E217G
c.650A>G
1 paper
NM_004738.5
p.A210V
c.629C>T
1 paper
NM_004738.5
p.G219V
c.656G>T
1 paper
NM_004738.5
p.I208V
c.622A>G
1 paper
NM_004738.5
p.L220F
c.658C>T
1 paper
NM_004738.5
p.T222A
c.664A>G
1 paper
NM_004738.5
p.T222_R223ins1
c.666_667insGGC
1 paper
NM_004738.5
p.R223W
c.667C>T
1 paper
NM_004738.5
p.T201I
c.602C>T
1 paper
NM_004738.5
p.R199W
c.595A>T
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