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.A465delFs

c.1393_1394delGC

Surrounding Variants

2 papers

NM_139027.6

p.G464S

c.1390G>A

1 paper

NM_139027.6

p.G463G

c.1389C>T

2 papers

NM_139027.6

p.G464G

c.1392C>T

1 paper

NM_139027.6

p.G463S

c.1387G>A

1 paper

NM_139027.6

p.A465T

c.1393G>A

1 paper

NM_139027.6

p.G463R

c.1387G>C

1 paper

NM_139027.6

p.P462P

c.1386T>C

1 paper

NM_139027.6

p.P462L

c.1385C>T

1 paper

NM_139027.6

p.P462S

c.1384C>T

1 paper

NM_139027.6

p.S461Y

c.1382C>A

1 paper

NM_139027.6

p.S461F

c.1382C>T

1 paper

NM_139027.6

p.F467L

c.1399T>C