Varaico: Literature-Extracted Genetic Variants

Gene:VWA5B2
Variant:p.G1045A

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.G1045A
c.3134G>C
Surrounding Variants
1 paper
NM_001390846.1
p.D1043Y
c.3127G>T
1 paper
NM_001390846.1
p.D1012A
c.3035A>C
1 paper
NM_001390846.1
p.R1008C
c.3022C>T
1 paper
NM_001390846.1
p.L1060_V1061Splc
c.3181-1G>T
1 paper
NM_001390846.1
p.S993F
c.2978C>T
1 paper
NM_001390846.1
p.C1077*
c.3231C>A
1 paper
NM_001390846.1
p.T1123M
c.3368C>T
1 paper
NM_001390846.1
p.G1153A
c.3458G>C
1 paper
NM_001390846.1
p.A941V
c.2822C>T
1 paper
NM_001390846.1
p.L1209L
c.3625C>T
1 paper
NM_001390846.1
p.T909N
c.2726C>A
1 paper
NM_001390846.1
p.R896W
c.2686C>T
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