Varaico: Literature-Extracted Genetic Variants

Gene:VWA8
Variant:p.V1564M

VWA8

132 papers

Pfam Domains

AAA_5aa 105–261UCSCAAA domain (dynein-related subfamily)
AAA_5aa 442–603UCSCAAA domain (dynein-related subfamily)
AAA_5aa 776–923UCSCAAA domain (dynein-related subfamily)

Gene Aliases

HGNC Name

von Willebrand factor A domain containing 8

HGNC Previous Symbol

KIAA0564

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_015058.2
p.V1564M
c.4690G>A
Surrounding Variants
1 paper
NM_015058.2
p.W1569G
c.4705T>G
1 paper
NM_015058.2
p.E1546*
c.4636G>T
1 paper
NM_015058.2
p.K1584R
c.4751A>G
1 paper
NM_015058.2
p.R1589L
c.4766G>T
1 paper
NM_015058.2
p.A1592T
c.4774G>A
1 paper
NM_015058.2
p.Q1598*
c.4792C>T
1 paper
NM_015058.2
p.A1622T
c.4864G>A
1 paper
NM_015058.2
p.K1628K
c.4884G>A
1 paper
NM_015058.2
p.S1633N
c.4898G>A
1 paper
NM_015058.2
p.R1648P
c.4943G>C
1 paper
NM_015058.2
p.R1649*
c.4945C>T
1 paper
NM_015058.2
p.R1649Q
c.4946G>A
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