Varaico: Literature-Extracted Genetic Variants

Gene:VWA8
Variant:p.N1357S

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.N1357S
c.4070A>G
Surrounding Variants
1 paper
NM_015058.2
p.M1377_S1378Splc
c.4131+1G>A
2 papers
NM_015058.2
p.E1300K
c.3898G>A
1 paper
NM_015058.2
p.S1285G
c.3853A>G
1 paper
NM_015058.2
p.E1284Q
c.3850G>C
1 paper
NM_015058.2
p.G1258A
c.3773G>C
1 paper
NM_015058.2
p.K1244E
c.3730A>G
1 paper
NM_015058.2
p.C1231G
c.3691T>G
1 paper
NM_015058.2
p.A1225_E1226Splc
c.3675+1G>A
1 paper
NM_015058.2
p.V1191I
c.3571G>A
1 paper
NM_015058.2
p.Q1188_S1189Splc
c.3565-2A>T
1 paper
NM_015058.2
p.Q1188_S1189Splc
c.3565-16T>G
1 paper
NM_015058.2
p.R1394*
c.4180C>T
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