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

3 papers

NM_139027.6

p.Y603C

c.1808A>G

Surrounding Variants

1 paper

NM_139027.6

p.R602R

c.1806C>T

3 papers

NM_139027.6

p.V604I

c.1810G>A

1 paper

NM_139027.6

p.R602H

c.1805G>A

1 paper

NM_139027.6

p.R602C

c.1804C>T

1 paper

NM_139027.6

p.V604V

c.1812C>T

1 paper

NM_139027.6

p.V605M

c.1813G>A

1 paper

NM_139027.6

p.V605L

c.1813G>C

1 paper

NM_139027.6

p.V605L

c.1813G>T

1 paper

NM_139027.6

p.G601R

c.1801G>A

1 paper

NM_139027.6

p.G601R

c.1801G>C

1 paper

NM_139027.6

p.V605V

c.1815G>T

9 papers

NM_139027.6

p.A606P

c.1816G>C