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.W897*

c.2691G>A

Surrounding Variants

1 paper

NM_139027.6

p.W897*

c.2690G>A

1 paper

NM_139027.6

p.T898N

c.2693C>A

1 paper

NM_139027.6

p.T898T

c.2694C>T

1 paper

NM_139027.6

p.V896A

c.2687T>C

1 paper

NM_139027.6

p.V896M

c.2686G>A

1 paper

NM_139027.6

p.V896L

c.2686G>C

1 paper

NM_139027.6

p.V896L

c.2686G>T

1 paper

NM_139027.6

p.H895H

c.2685C>T

29 papers

NM_139027.6

p.A900V

c.2699C>T

1 paper

NM_139027.6

p.A900A

c.2700G>A

1 paper

NM_139027.6

p.A894V

c.2681C>T

2 papers

NM_139027.6

p.A901S

c.2701G>T