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.E1062D

c.3186G>T

Surrounding Variants

1 paper

NM_139027.6

p.E1062D

c.3186G>C

1 paper

NM_139027.6

p.A1063_S1064delFs

c.3189_3190delCA

1 paper

NM_139027.6

p.E1062K

c.3184G>A

1 paper

NM_139027.6

p.P1061P

c.3183C>T

1 paper

NM_139027.6

p.S1064S

c.3192T>C

3 papers

NM_139027.6

p.R1060Q

c.3179G>A

1 paper

NM_139027.6

p.V1065F

c.3193G>T

81 papers

NM_139027.6

p.R1060W

c.3178C>T

1 paper

NM_139027.6

p.R1060delins

c.3178_3180delinsGAT

1 paper

NM_139027.6

p.P1066delFs

c.3198delC

1 paper

NM_139027.6

p.V1065V

c.3195C>G

1 paper

NM_139027.6

p.V1059V

c.3177G>A