Varaico: Literature-Extracted Genetic Variants

Gene:VWA5A
Variant:p.M360I

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
1 paper
NM_001130142.2
p.M360I
c.1080G>A
Surrounding Variants
1 paper
NM_001130142.2
p.M360I
c.1080G>C
1 paper
NM_001130142.2
p.M360I
c.1080G>T
1 paper
NM_001130142.2
p.L359V
c.1075C>G
1 paper
NM_001130142.2
p.P372R
c.1115C>G
1 paper
NM_001130142.2
p.Q347*
c.1039C>T
1 paper
NM_001130142.2
p.E341D
c.1023G>C
1 paper
NM_001130142.2
p.E341D
c.1023G>T
1 paper
NM_001130142.2
p.P340Splc
c.1019+2T>A
2 papers
NM_001130142.2
p.Y325C
c.974A>G
2 papers
NM_001130142.2
p.K310_E311Splc
c.931-2A>G
1 paper
NM_001130142.2
p.T393I
c.1178C>T
2 papers
NM_001130142.2
p.E396K
c.1186G>A
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