Varaico: Literature-Extracted Genetic Variants

Gene:VWA3A
Variant:p.E452_K453Splc

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.E452_K453Splc
c.1356+6T>C
Surrounding Variants
1 paper
NM_173615.5
p.L427P
c.1280T>C
1 paper
NM_173615.5
p.N402Y
c.1204A>T
1 paper
NM_173615.5
p.A394T
c.1180G>A
1 paper
NM_173615.5
p.D393D
c.1179C>T
1 paper
NM_173615.5
p.D462N
c.1384G>A
1 paper
NM_173615.5
p.N467K
c.1401C>A
1 paper
NM_173615.5
p.N467K
c.1401C>G
3 papers
NM_173615.5
p.Y476C
c.1427A>G
1 paper
NM_173615.5
p.Y489C
c.1466A>G
1 paper
NM_173615.5
p.T506I
c.1517C>T
1 paper
NM_173615.5
p.C368F
c.1103G>T
1 paper
NM_173615.5
p.C368R
c.1102T>C
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