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.E212K

c.634G>A

Surrounding Variants

1 paper

NM_139027.6

p.E212Q

c.634G>C

3 papers

NM_139027.6

p.E212A

c.635A>C

1 paper

NM_139027.6

p.T211T

c.633C>T

1 paper

NM_139027.6

p.I210M

c.630T>G

1 paper

NM_139027.6

p.L209L

c.627C>G

1 paper

NM_139027.6

p.G215_V220del6

c.643_659del18

1 paper

NM_139027.6

p.G215S

c.643G>A

1 paper

NM_139027.6

p.C208S

c.623G>C

1 paper

NM_139027.6

p.L209_V220del12

c.625_659del36

1 paper

NM_139027.6

p.C208S

c.622T>A

1 paper

NM_139027.6

p.S207R

c.621C>A

1 paper

NM_139027.6

p.S207R

c.621C>G