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.R452G

c.1354A>G

Surrounding Variants

1 paper

NM_139027.6

p.R452R

c.1356G>A

1 paper

NM_139027.6

p.A451T

c.1351G>A

1 paper

NM_139027.6

p.A451S

c.1351G>T

1 paper

NM_139027.6

p.C450C

c.1350C>T

1 paper

NM_139027.6

p.T453T

c.1359C>T

1 paper

NM_139027.6

p.D454N

c.1360G>A

1 paper

NM_139027.6

p.D454A

c.1361A>C

1 paper

NM_139027.6

p.D454D

c.1362C>T

1 paper

NM_139027.6

p.Q449E

c.1345C>G

21 papers

NM_139027.6

p.Q449*

c.1345C>T

1 paper

NM_139027.6

p.G455S

c.1363G>A

1 paper

NM_139027.6

p.G455R

c.1363G>C