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

2 papers

NM_139027.6

p.Q892*

c.2674C>T

Surrounding Variants

1 paper

NM_139027.6

p.A891V

c.2672C>T

1 paper

NM_139027.6

p.A891T

c.2671G>A

2 papers

NM_139027.6

p.A893S

c.2677G>T

1 paper

NM_139027.6

p.A891S

c.2671G>T

1 paper

NM_139027.6

p.G890A

c.2669G>C

2 papers

NM_139027.6

p.G890V

c.2669G>T

1 paper

NM_139027.6

p.A894V

c.2681C>T

2 papers

NM_139027.6

p.T889T

c.2667G>A

1 paper

NM_139027.6

p.T889M

c.2666C>T

1 paper

NM_139027.6

p.H895H

c.2685C>T

1 paper

NM_139027.6

p.V896M

c.2686G>A

1 paper

NM_139027.6

p.V896L

c.2686G>C