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

4 papers

NM_139027.6

p.S240_C242del0

c.719_724del6

Surrounding Variants

2 papers

NM_139027.6

p.S240fs

c.718_719fs

5 papers

NM_139027.6

p.S240_C242delFs

c.718_724del7

1 paper

NM_139027.6

p.S240N

c.719G>A

1 paper

NM_139027.6

p.S240S

c.720C>T

2 papers

NM_139027.6

p.G241delFs

c.721delG

2 papers

NM_139027.6

p.G239V

c.716G>T

1 paper

NM_139027.6

p.G239delFs

c.717delC

1 paper

NM_139027.6

p.G239S

c.715G>A

1 paper

NM_139027.6

p.G241fs

c.721_722fs

1 paper

NM_139027.6

p.P238P

c.714C>T

1 paper

NM_139027.6

p.G241A

c.722G>C

1 paper

NM_139027.6

p.A237_P238insFs

c.711_712insGG