Varaico: Literature-Extracted Genetic Variants

Gene:VWA5A
Variant:p.S499I

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
Selected Variant
2 papers
NM_001130142.2
p.S499I
c.1496G>T
Surrounding Variants
1 paper
NM_001130142.2
p.R506K
c.1517G>A
1 paper
NM_001130142.2
p.G524A
c.1571G>C
1 paper
NM_001130142.2
p.R547H
c.1640G>A
1 paper
NM_001130142.2
p.D568N
c.1702G>A
1 paper
NM_001130142.2
p.L573V
c.1717T>G
1 paper
NM_001130142.2
p.V608I
c.1822G>A
1 paper
NM_001130142.2
p.I612V
c.1834A>G
1 paper
NM_001130142.2
p.G615D
c.1844G>A
1 paper
NM_001130142.2
p.Q451H
c.1353G>C
1 paper
NM_001130142.2
p.Q451H
c.1353G>T
1 paper
NM_001130142.2
p.G446S
c.1336G>A
1 paper
NM_001130142.2
p.R629*
c.1885C>T
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