Varaico: Literature-Extracted Genetic Variants

Gene:VWA3A
Variant:p.G617delFs

VWA3A

66 papers

Pfam Domains

VWA_3aa 169–324UCSCvon Willebrand factor type A domain
VWA_3aa 510–655UCSCvon Willebrand factor type A domain
VWA_3aa 958–1113UCSCvon Willebrand factor type A domain

Gene Aliases

HGNC Name

von Willebrand factor A domain containing 3A

HGNC Alias Symbols

FLJ46765; FLJ40941

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173615.5
p.G617delFs
c.1849delG
Surrounding Variants
1 paper
NM_173615.5
p.G618fs
c.1852_1853fs
1 paper
NM_173615.5
p.R594W
c.1780C>T
1 paper
NM_173615.5
p.E557K
c.1669G>A
6 papers
NM_173615.5
p.T657I
c.1970C>T
1 paper
NM_173615.5
p.R661H
c.1982G>A
1 paper
NM_173615.5
p.G690S
c.2068G>A
4 papers
NM_173615.5
p.C546Y
c.1637G>A
1 paper
NM_173615.5
p.E538insFs
c.1613_1614ins11
1 paper
NM_173615.5
p.D517N
c.1549G>A
1 paper
NM_173615.5
p.Q743H
c.2229G>C
1 paper
NM_173615.5
p.Q743H
c.2229G>T
1 paper
NM_173615.5
p.P753_P754insFs
c.2259_2260insC
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