Varaico: Literature-Extracted Genetic Variants

Gene:VWA8
Variant:p.R668Q

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
4 papers
NM_015058.2
p.R668Q
c.2003G>A
Surrounding Variants
1 paper
NM_015058.2
p.Q671*
c.2011C>T
1 paper
NM_015058.2
p.R664G
c.1990C>G
2 papers
NM_015058.2
p.R660G
c.1978A>G
1 paper
NM_015058.2
p.T649R
c.1946C>G
1 paper
NM_015058.2
p.K634*
c.1900A>T
1 paper
NM_015058.2
p.P625L
c.1874C>T
1 paper
NM_015058.2
p.A580T
c.1738G>A
1 paper
NM_015058.2
p.H573R
c.1718A>G
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