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.F216F

c.648C>T

Surrounding Variants

3 papers

NM_139027.6

p.D217N

c.649G>A

8 papers

NM_139027.6

p.D217H

c.649G>C

2 papers

NM_139027.6

p.D217A

c.650A>C

1 paper

NM_139027.6

p.L218L

c.652C>T

1 paper

NM_139027.6

p.G215S

c.643G>A

1 paper

NM_139027.6

p.L218L

c.654G>T

1 paper

NM_139027.6

p.G215_V220del6

c.643_659del18

3 papers

NM_139027.6

p.G219R

c.655G>A

3 papers

NM_139027.6

p.G219R

c.655G>C

1 paper

NM_139027.6

p.V220_T221ins6

c.658_662ins18

1 paper

NM_139027.6

p.V220D

c.659T>A

1 paper

NM_139027.6

p.V220A

c.659T>C