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

54 papers

NM_139027.6

p.P618A

c.1852C>G

Surrounding Variants

1 paper

NM_139027.6

p.P618S

c.1852C>T

1 paper

NM_139027.6

p.P618P

c.1854C>A

1 paper

NM_139027.6

p.T616T

c.1848C>T

1 paper

NM_139027.6

p.S619F

c.1856C>T

1 paper

NM_139027.6

p.T616A

c.1846A>G

2 papers

NM_139027.6

p.L620H

c.1859T>A

1 paper

NM_139027.6

p.L620L

c.1860C>T

1 paper

NM_139027.6

p.N614T

c.1841A>C

1 paper

NM_139027.6

p.N614D

c.1840A>G

1 paper

NM_139027.6

p.N614Y

c.1840A>T

1 paper

NM_139027.6

p.S612F

c.1835C>T

1 paper

NM_139027.6

p.I611I

c.1833C>T