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

Selected Variant

1 paper

NM_139027.6

p.S251L

c.752C>T

Surrounding Variants

1 paper

NM_139027.6

p.S251*

c.752C>A

1 paper

NM_139027.6

p.S251A

c.751T>G

1 paper

NM_139027.6

p.D252N

c.754G>A

1 paper

NM_139027.6

p.D252A

c.755A>C

1 paper

NM_139027.6

p.A250G

c.749C>G

20 papers

NM_139027.6

p.A250V

c.749C>T

1 paper

NM_139027.6

p.G253S

c.757G>A

1 paper

NM_139027.6

p.A254T

c.760G>A

4 papers

NM_139027.6

p.P256_A258insFs

c.768_774dup7

1 paper

NM_139027.6

p.P256_A258delFs

c.768_774del7

1 paper

NM_139027.6

p.A254A

c.762C>T

1 paper

NM_139027.6

p.V248M

c.742G>A