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.G236S

c.706G>A

Surrounding Variants

9 papers

NM_139027.6

p.G236C

c.706G>T

1 paper

NM_139027.6

p.G236insFs

c.708dupC

1 paper

NM_139027.6

p.G236delFs

c.708delC

2 papers

NM_139027.6

p.G236_A237insFs

c.708_709insG

13 papers

NM_139027.6

p.D235H

c.703G>C

11 papers

NM_139027.6

p.D235Y

c.703G>T

1 paper

NM_139027.6

p.A237fs

c.709_710fs

17 papers

NM_139027.6

p.H234Q

c.702C>A

1 paper

NM_139027.6

p.A237_P238insFs

c.711_712insGG

17 papers

NM_139027.6

p.H234Q

c.702C>G

7 papers

NM_139027.6

p.H234R

c.701A>G

1 paper

NM_139027.6

p.H234N

c.700C>A