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.S610R

c.1830C>G

Surrounding Variants

1 paper

NM_139027.6

p.S610R

c.1830C>A

1 paper

NM_139027.6

p.S610S

c.1830C>T

1 paper

NM_139027.6

p.I611V

c.1831A>G

1 paper

NM_139027.6

p.S610R

c.1828A>C

1 paper

NM_139027.6

p.I611I

c.1833C>T

1 paper

NM_139027.6

p.S612F

c.1835C>T

4 papers

NM_139027.6

p.K608N

c.1824G>C

4 papers

NM_139027.6

p.K608N

c.1824G>T

1 paper

NM_139027.6

p.K608R

c.1823A>G

1 paper

NM_139027.6

p.G607G

c.1821G>A

1 paper

NM_139027.6

p.N614D

c.1840A>G

1 paper

NM_139027.6

p.N614Y

c.1840A>T