Varaico: Literature-Extracted Genetic Variants

Gene:VWA8
Variant:p.P1158L

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.P1158L
c.3473C>T
Surrounding Variants
1 paper
NM_015058.2
p.T1160P
c.3478A>C
1 paper
NM_015058.2
p.D1155G
c.3464A>G
1 paper
NM_015058.2
p.V1164I
c.3490G>A
1 paper
NM_015058.2
p.E1110K
c.3328G>A
1 paper
NM_015058.2
p.K1062delFs
c.3186delT
1 paper
NM_015058.2
p.K1062fs
c.3184_3185fs
1 paper
NM_015058.2
p.Q1061P
c.3182A>C
1 paper
NM_015058.2
p.M1048I
c.3144G>T
1 paper
NM_015058.2
p.M1048I
c.3144G>C
1 paper
NM_015058.2
p.M1048I
c.3144G>A
1 paper
NM_015058.2
p.Q1188_S1189Splc
c.3565-16T>G
1 paper
NM_015058.2
p.Q1188_S1189Splc
c.3565-2A>T
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