Varaico: Literature-Extracted Genetic Variants

Gene:VWA5A
Variant:p.F29I

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.F29I
c.85T>A
Surrounding Variants
1 paper
NM_001130142.2
p.V24M
c.70G>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
1 paper
NM_001130142.2
p.T204T
c.612C>T
1 paper
NM_001130142.2
p.D210Y
c.628G>T
1 paper
NM_001130142.2
p.R226W
c.676C>T
1 paper
NM_001130142.2
p.E229*
c.685G>T
1 paper
NM_001130142.2
p.M292T
c.875T>C
2 papers
NM_001130142.2
p.K310_E311Splc
c.931-2A>G
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