Varaico: Literature-Extracted Genetic Variants

VWF

2,189 papers

RefSeq Summary

This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhe...

Pfam Domains

VWDaa 35–179UCSCvon Willebrand factor type D domain

C8aa 224–292UCSCC8 domain

TILaa 295–348UCSCTrypsin Inhibitor like cysteine rich domain

VWDaa 388–541UCSCvon Willebrand factor type D domain

C8aa 583–649UCSCC8 domain

TILaa 652–707UCSCTrypsin Inhibitor like cysteine rich domain

Gene Aliases

HGNC Name

von Willebrand factor

HGNC Previous Symbol

F8VWF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

46 papers

NM_000552.5

p.R273W

c.817C>T

Surrounding Variants

3 papers

NM_000552.5

p.R273P

c.818G>C

1 paper

NM_000552.5

p.R273Q

c.818G>A

1 paper

NM_000552.5

p.T274P

c.820A>C

1 paper

NM_000552.5

p.T274I

c.821C>T

6 papers

NM_000552.5

p.Y271*

c.813C>G

6 papers

NM_000552.5

p.Y271*

c.813C>A

1 paper

NM_000552.5

p.C263_Y271del0

c.788_811del24

11 papers

NM_000552.5

p.C275R

c.823T>C

15 papers

NM_000552.5

p.C275S

c.823T>A

1 paper

NM_000552.5

p.E270del1

c.808_809delCTC

15 papers

NM_000552.5

p.C275S

c.824G>C

1 paper

NM_000552.5

p.C275Y

c.824G>A