Varaico: Literature-Extracted Genetic Variants

Gene:VWA5B2

VWA5B2

55 papers

Pfam Domains

VIT_2aa 2–79UCSCVault protein inter-alpha-trypsin domain
VWA_3aa 353–501UCSCvon Willebrand factor type A domain

Gene Aliases

HGNC Name

von Willebrand factor A domain containing 5B2

HGNC Alias Symbols

DKFZp761K032; LOC90113

Papers
RefSeq ID
Protein change
DNA change
1–12 of 72 variants
3 papers
NM_001390846.1
p.G90S
c.268G>A
2 papers
NM_001390846.1
p.P200S
c.598C>T
2 papers
NM_001390846.1
p.G613D
c.1838G>A
1 paper
NM_001390846.1
p.N25delFs
c.74delA
1 paper
NM_001390846.1
p.N25D
c.73A>G
1 paper
NM_001390846.1
p.S81W
c.242C>G
1 paper
NM_001390846.1
p.R114G
c.340C>G
1 paper
NM_001390846.1
p.T121K
c.362C>A
1 paper
NM_001390846.1
p.A127T
c.379G>A
1 paper
NM_001390846.1
p.T157N
c.470C>A
1 paper
NM_001390846.1
p.D176N
c.526G>A
1 paper
NM_001390846.1
p.S177Splc
c.530+2T>C
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