Varaico: Literature-Extracted Genetic Variants

Gene:VWA8
Variant:p.Q988_K989Splc

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.Q988_K989Splc
c.2965-4A>G
Surrounding Variants
1 paper
NM_015058.2
p.Y1023*
c.3069C>G
1 paper
NM_015058.2
p.Y1023*
c.3069C>A
3 papers
NM_015058.2
p.G1024R
c.3070G>C
3 papers
NM_015058.2
p.G1024R
c.3070G>A
1 paper
NM_015058.2
p.Q988H
c.2964G>T
1 paper
NM_015058.2
p.Q988H
c.2964G>C
1 paper
NM_015058.2
p.S976F
c.2927C>T
1 paper
NM_015058.2
p.C925G
c.2773T>G
1 paper
NM_015058.2
p.G912R
c.2734G>C
2 papers
NM_015058.2
p.R898K
c.2693G>A
1 paper
NM_015058.2
p.D873H
c.2617G>C
1 paper
NM_015058.2
p.T857M
c.2570C>T
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