Varaico: Literature-Extracted Genetic Variants

Gene:VWA5A
Variant:p.H759Y

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.H759Y
c.2275C>T
Surrounding Variants
2 papers
NM_001130142.2
p.H759R
c.2276A>G
1 paper
NM_001130142.2
p.A758A
c.2274C>T
1 paper
NM_001130142.2
p.R757H
c.2270G>A
1 paper
NM_001130142.2
p.K751N
c.2253G>C
1 paper
NM_001130142.2
p.K751N
c.2253G>T
1 paper
NM_001130142.2
p.S722P
c.2164T>C
1 paper
NM_001130142.2
p.S766L
c.2297C>T
1 paper
NM_001130142.2
p.P781S
c.2341C>T
1 paper
NM_001130142.2
p.A785S
c.2353G>T
1 paper
NM_001130142.2
p.M706I
c.2118G>A
1 paper
NM_001130142.2
p.M706I
c.2118G>C
1 paper
NM_001130142.2
p.M706I
c.2118G>T
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