Varaico: Literature-Extracted Genetic Variants

Gene:VWDE
Variant:p.K1273fs

VWDE

133 papers

Pfam Domains

D8C_UMODaa 64–157UCSCUromodulin-like, D8C domain
Ig_VWDEaa 186–290UCSCVWDE-like, immunoglobulin domain
VWDaa 425–582UCSCvon Willebrand factor type D domain
Vwdeaa 796–885UCSCVwde-like domain

Gene Aliases

HGNC Name

von Willebrand factor D and EGF domains

HGNC Alias Symbol

FLJ14712

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001135924.3
p.K1273fs
c.3817_3818fs
Surrounding Variants
1 paper
NM_001135924.3
p.K1273*
c.3817A>T
3 papers
NM_001135924.3
p.N1272insFs
c.3816dupT
1 paper
NM_001135924.3
p.N1272fs
c.3814_3815fs
1 paper
NM_001135924.3
p.N1272insFs
c.3815_3816insA
1 paper
NM_001135924.3
p.S1267F
c.3800C>T
1 paper
NM_001135924.3
p.K1284M
c.3851A>T
3 papers
NM_001135924.3
p.Q1256K
c.3766C>A
1 paper
NM_001135924.3
p.H1211N
c.3631C>A
1 paper
NM_001135924.3
p.V1190V
c.3570A>G
1 paper
NM_001135924.3
p.G1186G
c.3558T>C
1 paper
NM_001135924.3
p.V1178L
c.3532G>T
1 paper
NM_001135924.3
p.V1178L
c.3532G>C
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