Varaico: Literature-Extracted Genetic Variants

Gene:VWA5B1
Variant:p.K381_D382Splc

VWA5B1

94 papers

Gene Aliases

HGNC Name

von Willebrand factor A domain containing 5B1

HGNC Alias Symbol

FLJ32784

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001039500.3
p.K381_D382Splc
c.1143+2T>C
Surrounding Variants
1 paper
NM_001039500.3
p.K381_D382Splc
c.1143+5C>T
1 paper
NM_001039500.3
p.M372I
c.1116G>A
1 paper
NM_001039500.3
p.M372I
c.1116G>C
1 paper
NM_001039500.3
p.M372I
c.1116G>T
1 paper
NM_001039500.3
p.I366T
c.1097T>C
1 paper
NM_001039500.3
p.V339I
c.1015G>A
1 paper
NM_001039500.3
p.R327Q
c.980G>A
1 paper
NM_001039500.3
p.N398Y
c.1192A>T
1 paper
NM_001039500.3
p.I400T
c.1199T>C
1 paper
NM_001039500.3
p.P279S
c.835C>T
1 paper
NM_001039500.3
p.V273M
c.817G>A
1 paper
NM_001039500.3
p.A256T
c.766G>A
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