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.V352I

c.1054G>A

Surrounding Variants

1 paper

NM_139027.6

p.L351L

c.1053C>T

2 papers

NM_139027.6

p.V352G

c.1055T>G

27 papers

NM_139027.6

p.P353L

c.1058C>T

1 paper

NM_139027.6

p.L350R

c.1049T>G

1 paper

NM_139027.6

p.R349H

c.1046G>A

1 paper

NM_139027.6

p.R349L

c.1046G>T

1 paper

NM_139027.6

p.R349S

c.1045C>A

19 papers

NM_139027.6

p.R349C

c.1045C>T

1 paper

NM_139027.6

p.L355L

c.1063C>T

11 papers

NM_139027.6

p.C347S

c.1040G>C

11 papers

NM_139027.6

p.C347S

c.1039T>A

2 papers

NM_139027.6

p.C347R

c.1039T>C