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

2 papers

NM_139027.6

p.R257fs

c.769_770fs

Surrounding Variants

1 paper

NM_139027.6

p.P256P

c.768C>G

1 paper

NM_139027.6

p.P256P

c.768C>T

1 paper

NM_139027.6

p.R257R

c.771C>T

1 paper

NM_139027.6

p.P256S

c.766C>T

1 paper

NM_139027.6

p.P256fs

c.766_767fs

2 papers

NM_139027.6

p.A258T

c.772G>A

1 paper

NM_139027.6

p.A255V

c.764C>T

1 paper

NM_139027.6

p.G259S

c.775G>A

2 papers

NM_139027.6

p.G259fs

c.775_776fs

1 paper

NM_139027.6

p.A254A

c.762C>T

1 paper

NM_139027.6

p.A254T

c.760G>A

4 papers

NM_139027.6

p.P256_A258insFs

c.768_774dup7