Varaico: Literature-Extracted Genetic Variants

Gene:VWA5A

VWA5A

54 papers

Pfam Domains

VITaa 17–129UCSCVault protein inter-alpha-trypsin domain
VWA_3aa 280–443UCSCvon Willebrand factor type A domain

Gene Aliases

HGNC Name

von Willebrand factor A domain containing 5A

HGNC Previous Symbol

LOH11CR2A

Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
2 papers
NM_001130142.2
p.K310_E311Splc
c.931-2A>G
2 papers
NM_001130142.2
p.Y325C
c.974A>G
2 papers
NM_001130142.2
p.E396K
c.1186G>A
2 papers
NM_001130142.2
p.S499I
c.1496G>T
2 papers
NM_001130142.2
p.H759R
c.2276A>G
1 paper
NM_001130142.2
p.V24M
c.70G>A
1 paper
NM_001130142.2
p.F29I
c.85T>A
1 paper
NM_001130142.2
p.G70W
c.208G>T
1 paper
NM_001130142.2
p.T85A
c.253A>G
1 paper
NM_001130142.2
p.G102E
c.305G>A
1 paper
NM_001130142.2
p.V171D
c.512T>A
1 paper
NM_001130142.2
p.N198D
c.592A>G
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