Varaico: Literature-Extracted Genetic Variants

Gene:VWA7
Variant:p.N220K

VWA7

46 papers

Pfam Domains

VWA7_Naa 82–305UCSCVWA7 N-terminal domain
VWA_4aa 315–484UCSCvon Willebrand factor A domain
GBD_Hemicentinaa 503–600UCSCHemicentin galactose-binding domain-like
VWA7_4aa 602–720UCSCVWA7 beta-sandwich domain
Ig_VWA7aa 725–829UCSCVWA7 Ig-like domain

Gene Aliases

HGNC Name

von Willebrand factor A domain containing 7

HGNC Previous Symbol

C6orf27

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025258.3
p.N220K
c.660T>G
Surrounding Variants
1 paper
NM_025258.3
p.N220K
c.660T>A
1 paper
NM_025258.3
p.P218S
c.652C>T
1 paper
NM_025258.3
p.S216N
c.647G>A
1 paper
NM_025258.3
p.Q203*
c.607C>T
1 paper
NM_025258.3
p.H248D
c.742C>G
1 paper
NM_025258.3
p.R296*
c.886C>T
1 paper
NM_025258.3
p.M326_G327ins8
c.976_980ins24
1 paper
NM_025258.3
p.R338C
c.1012C>T
1 paper
NM_025258.3
p.Q343*
c.1027C>T
1 paper
NM_025258.3
p.R109insFs
c.326_327ins8
1 paper
NM_025258.3
p.R109fs
c.325_326fs
1 paper
NM_025258.3
p.E350E
c.1050G>A
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