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

20 papers

NM_139027.6

p.S903L

c.2708C>T

Surrounding Variants

1 paper

NM_139027.6

p.S903S

c.2709G>A

1 paper

NM_139027.6

p.A901A

c.2703A>G

1 paper

NM_139027.6

p.S905delFs

c.2715delC

1 paper

NM_139027.6

p.S905S

c.2715C>T

2 papers

NM_139027.6

p.A901S

c.2701G>T

2 papers

NM_139027.6

p.V906I

c.2716G>A

1 paper

NM_139027.6

p.A900A

c.2700G>A

29 papers

NM_139027.6

p.A900V

c.2699C>T

1 paper

NM_139027.6

p.S907S

c.2721C>T

1 paper

NM_139027.6

p.T898T

c.2694C>T

10 papers

NM_139027.6

p.C908S

c.2722T>A

1 paper

NM_139027.6

p.C908G

c.2722T>G