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.R193L

c.578G>T

Surrounding Variants

9 papers

NM_139027.6

p.R193Q

c.578G>A

32 papers

NM_139027.6

p.R193W

c.577C>T

4 papers

NM_139027.6

p.G194V

c.581G>T

1 paper

NM_139027.6

p.V192A

c.575T>C

3 papers

NM_139027.6

p.G194G

c.582C>T

2 papers

NM_139027.6

p.V195I

c.583G>A

1 paper

NM_139027.6

p.Q191L

c.572A>T

1 paper

NM_139027.6

p.T196_Q197ins14

c.586_590ins42

1 paper

NM_139027.6

p.T196A

c.586A>G

24 papers

NM_139027.6

p.T196I

c.587C>T

1 paper

NM_139027.6

p.R190Q

c.569G>A

1 paper

NM_139027.6

p.R190W

c.568C>T