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

28 papers

NM_139027.6

p.R268P

c.803G>C

Surrounding Variants

3 papers

NM_139027.6

p.R268Q

c.803G>A

1 paper

NM_139027.6

p.R268R

c.804G>A

1 paper

NM_139027.6

p.Q269H

c.807G>C

1 paper

NM_139027.6

p.Q269H

c.807G>T

1 paper

NM_139027.6

p.S266R

c.798C>A

1 paper

NM_139027.6

p.S266R

c.798C>G

1 paper

NM_139027.6

p.L270V

c.808C>G

1 paper

NM_139027.6

p.S266R

c.796A>C

5 papers

NM_139027.6

p.S266C

c.796A>T

1 paper

NM_139027.6

p.L270L

c.810G>T

1 paper

NM_139027.6

p.L271M

c.811C>A

3 papers

NM_139027.6

p.C265S

c.794G>C