Varaico: Literature-Extracted Genetic Variants

Gene:VWA7
Variant:p.N781S

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.N781S
c.2342A>G
Surrounding Variants
1 paper
NM_025258.3
p.S800F
c.2399C>T
1 paper
NM_025258.3
p.S800S
c.2400C>T
1 paper
NM_025258.3
p.E812D
c.2436A>T
1 paper
NM_025258.3
p.E812D
c.2436A>C
1 paper
NM_025258.3
p.P818S
c.2452C>T
1 paper
NM_025258.3
p.V827A
c.2480T>C
1 paper
NM_025258.3
p.Q833_D834Splc
c.2499+10C>T
1 paper
NM_025258.3
p.G753R
c.2257G>C
1 paper
NM_025258.3
p.R835Q
c.2504G>A
1 paper
NM_025258.3
p.P732L
c.2195C>T
4 papers
NM_025258.3
p.T861A
c.2581A>G
2 papers
NM_025258.3
p.G877R
c.2629G>C
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