Varaico: Literature-Extracted Genetic Variants

Gene:VWA8
Variant:p.L293L

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
1 paper
NM_015058.2
p.L293L
c.879C>T
Surrounding Variants
1 paper
NM_015058.2
p.S302F
c.905C>T
1 paper
NM_015058.2
p.P314delFs
c.941delG
3 papers
NM_015058.2
p.D316G
c.947A>G
1 paper
NM_015058.2
p.K289Splc
c.866+17A>G
1 paper
NM_015058.2
p.Y279H
c.835T>C
1 paper
NM_015058.2
p.R260L
c.779G>T
1 paper
NM_015058.2
p.R258H
c.773G>A
1 paper
NM_015058.2
p.L257fs
c.769_770fs
2 papers
NM_015058.2
p.P256insFs
c.767dupC
1 paper
NM_015058.2
p.V245M
c.733G>A
1 paper
NM_015058.2
p.P244L
c.731C>T
1 paper
NM_015058.2
p.S233T
c.698G>C
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