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.C908G

c.2722T>G

Surrounding Variants

10 papers

NM_139027.6

p.C908S

c.2722T>A

1 paper

NM_139027.6

p.S907S

c.2721C>T

22 papers

NM_139027.6

p.C908Y

c.2723G>A

11 papers

NM_139027.6

p.C908S

c.2723G>C

3 papers

NM_139027.6

p.C908W

c.2724C>G

2 papers

NM_139027.6

p.C908C

c.2724C>T

8 papers

NM_139027.6

p.G909R

c.2725G>A

8 papers

NM_139027.6

p.G909R

c.2725G>C

1 paper

NM_139027.6

p.G909G

c.2727G>A

19 papers

NM_139027.6

p.R910*

c.2728C>T

2 papers

NM_139027.6

p.V906I

c.2716G>A

1 paper

NM_139027.6

p.S905S

c.2715C>T