Varaico: Literature-Extracted Genetic Variants

Gene:VAPB
Variant:p.P56del1

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.P56del1
c.166_167delCCC
Surrounding Variants
1 paper
NM_004738.5
p.P56A
c.166C>G
267 papers
NM_004738.5
p.P56S
c.166C>T
1 paper
NM_004738.5
p.P56delins
c.166_167delinsGA
9 papers
NM_004738.5
p.P56H
c.167C>A
1 paper
NM_004738.5
p.C53delFs
c.158_159delGT
1 paper
NM_004738.5
p.R51S
c.153G>C
1 paper
NM_004738.5
p.I60V
c.178A>G
1 paper
NM_004738.5
p.R50H
c.149G>A
1 paper
NM_004738.5
p.A63P
c.187G>C
1 paper
NM_004738.5
p.A63V
c.188C>T
1 paper
NM_004738.5
p.A48T
c.142G>A
2 papers
NM_004738.5
p.T47A
c.139A>G
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