Varaico: Literature-Extracted Genetic Variants

Gene:VWA5B2
Variant:p.R662Q

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
Selected Variant
1 paper
NM_001390846.1
p.R662Q
c.1985G>A
Surrounding Variants
1 paper
NM_001390846.1
p.L667P
c.2000T>C
1 paper
NM_001390846.1
p.S673R
c.2017A>C
1 paper
NM_001390846.1
p.S673R
c.2019C>A
1 paper
NM_001390846.1
p.S673R
c.2019C>G
1 paper
NM_001390846.1
p.A650A
c.1950C>T
1 paper
NM_001390846.1
p.A650P
c.1948G>C
1 paper
NM_001390846.1
p.R710H
c.2129G>A
2 papers
NM_001390846.1
p.G613D
c.1838G>A
1 paper
NM_001390846.1
p.G613R
c.1837G>C
1 paper
NM_001390846.1
p.R771Q
c.2312G>A
1 paper
NM_001390846.1
p.T819M
c.2456C>T
1 paper
NM_001390846.1
p.P823P
c.2469T>G
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