Varaico: Literature-Extracted Genetic Variants

ADAMTS13

765 papers

RefSeq Summary

This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enz...

Pfam Domains

Reprolysinaa 81–286UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 301–372UCSCADAMTS cysteine-rich domain 2

TSP_1aa 388–438UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 441–555UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 557–680UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 13

HGNC Alias Symbols

VWFCP; TTP; vWF-CP; FLJ42993; MGC118899; MGC118900; DKFZp434C2322

Papers

RefSeq ID

Protein change

DNA change

1–12 of 1898 variants

81 papers

NM_139027.6

p.R1060W

c.3178C>T

71 papers

NM_139027.6

p.Q448E

c.1342C>G

66 papers

NM_139027.6

p.P475S

c.1423C>T

54 papers

NM_139027.6

p.P618A

c.1852C>G

42 papers

NM_139027.6

p.R7W

c.19C>T

32 papers

NM_139027.6

p.R193W

c.577C>T

30 papers

NM_139027.6

p.A732V

c.2195C>T

29 papers

NM_139027.6

p.A900V

c.2699C>T

28 papers

NM_139027.6

p.R268P

c.803G>C

27 papers

NM_139027.6

p.P353L

c.1058C>T

25 papers

NM_139027.6

p.P457L

c.1370C>T

24 papers

NM_139027.6

p.T196I

c.587C>T