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.G479Splc

c.1435+5G>T

Surrounding Variants

1 paper

NM_139026.6

p.G448E

c.1343G>A

1 paper

NM_139027.6

p.G479insFs

c.1435_1436insG

1 paper

NM_139027.6

p.Q478E

c.1432C>G

1 paper

NM_139027.6

p.H476H

c.1428C>T

1 paper

NM_139027.6

p.H476N

c.1426C>A

66 papers

NM_139027.6

p.P475S

c.1423C>T

1 paper

NM_139027.6

p.A472T

c.1414G>A

1 paper

NM_139027.6

p.G471V

c.1412G>T

3 papers

NM_139027.6

p.W470*

c.1410G>A

3 papers

NM_139027.6

p.W470*

c.1409G>A

3 papers

NM_139027.6

p.W470fs

c.1408_1409fs

2 papers

NM_139027.6

p.W470insFs

c.1408dupT