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.S203S

c.609C>T

Surrounding Variants

16 papers

NM_139027.6

p.S203P

c.607T>C

1 paper

NM_139027.6

p.T205P

c.613A>C

1 paper

NM_139027.6

p.T205S

c.613A>T

1 paper

NM_139027.6

p.T205S

c.614C>G

1 paper

NM_139027.6

p.T205T

c.615C>T

1 paper

NM_139027.6

p.W206R

c.616T>A

1 paper

NM_139027.6

p.W206R

c.616T>C

1 paper

NM_139027.6

p.A201T

c.601G>A

1 paper

NM_139027.6

p.W206C

c.618G>C

1 paper

NM_139027.6

p.W206C

c.618G>T

1 paper

NM_139027.6

p.G200G

c.600T>G

1 paper

NM_139027.6

p.S207R

c.619A>C