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.R629S

c.1887A>T

Surrounding Variants

1 paper

NM_139027.6

p.R629S

c.1887A>C

1 paper

NM_139027.6

p.R629G

c.1885A>G

1 paper

NM_139027.6

p.R629fs

c.1885_1886fs

5 papers

NM_139027.6

p.A631V

c.1892C>T

1 paper

NM_139027.6

p.L632V

c.1894C>G

1 paper

NM_139027.6

p.E627K

c.1879G>A

1 paper

NM_139027.6

p.E627*

c.1879G>T

1 paper

NM_139027.6

p.V626V

c.1878C>T

1 paper

NM_139027.6

p.T633T

c.1899C>T

10 papers

NM_139027.6

p.R625H

c.1874G>A

2 papers

NM_139027.6

p.E634K

c.1900G>A

1 paper

NM_139027.6

p.R625C

c.1873C>T