Varaico: Literature-Extracted Genetic Variants

Gene:VWA5B2
Variant:p.G346R

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.G346R
c.1036G>C
Surrounding Variants
1 paper
NM_001390846.1
p.G346R
c.1036G>A
1 paper
NM_001390846.1
p.G349R
c.1045G>A
1 paper
NM_001390846.1
p.G349R
c.1045G>C
1 paper
NM_001390846.1
p.R353_L356delFs
c.1058_1068del11
1 paper
NM_001390846.1
p.A351S
c.1051G>T
1 paper
NM_001390846.1
p.A334T
c.1000G>A
1 paper
NM_001390846.1
p.S363R
c.1087A>C
1 paper
NM_001390846.1
p.S363R
c.1089C>A
1 paper
NM_001390846.1
p.S363R
c.1089C>G
1 paper
NM_001390846.1
p.D326N
c.976G>A
1 paper
NM_001390846.1
p.R295W
c.883C>T
1 paper
NM_001390846.1
p.R264Q
c.791G>A
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