Varaico: Literature-Extracted Genetic Variants

Gene:VWA5B2
Variant:p.L417P

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.L417P
c.1250T>C
Surrounding Variants
1 paper
NM_001390846.1
p.S413N
c.1238G>A
1 paper
NM_001390846.1
p.E412K
c.1234G>A
1 paper
NM_001390846.1
p.A429T
c.1285G>A
1 paper
NM_001390846.1
p.P437S
c.1309C>T
1 paper
NM_001390846.1
p.A457T
c.1369G>A
1 paper
NM_001390846.1
p.M466T
c.1397T>C
1 paper
NM_001390846.1
p.P394L
c.1181C>T
1 paper
NM_001390846.1
p.L382F
c.1144C>T
1 paper
NM_001390846.1
p.P378P
c.1134G>A
1 paper
NM_001390846.1
p.G481R
c.1441G>A
1 paper
NM_001390846.1
p.G481R
c.1441G>C
1 paper
NM_001390846.1
p.S492C
c.1475C>G
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