Varaico: Literature-Extracted Genetic Variants

Gene:VWA5B1
Variant:p.N469S

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
5 papers
NM_001039500.3
p.N469S
c.1406A>G
Surrounding Variants
1 paper
NM_001039500.3
p.F483S
c.1448T>C
1 paper
NM_001039500.3
p.H453Y
c.1357C>T
1 paper
NM_001039500.3
p.R430K
c.1289G>A
1 paper
NM_001039500.3
p.R430*
c.1288A>T
1 paper
NM_001039500.3
p.R486Splc
c.1458-5G>A
1 paper
NM_001039500.3
p.I492I
c.1476T>A
1 paper
NM_001039500.3
p.E509Q
c.1525G>C
1 paper
NM_001039500.3
p.R520Q
c.1559G>A
1 paper
NM_001039500.3
p.I400T
c.1199T>C
1 paper
NM_001039500.3
p.N398Y
c.1192A>T
1 paper
NM_001039500.3
p.V536F
c.1606G>T
1 paper
NM_001039500.3
p.D539N
c.1615G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."