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.Q344R

c.1031A>G

Surrounding Variants

1 paper

NM_139027.6

p.Q344insFs

c.1031_1032ins11

15 papers

NM_139027.6

p.S345C

c.1033A>T

1 paper

NM_139026.6

p.D312D

c.936C>T

1 paper

NM_139027.6

p.D343A

c.1028A>C

2 papers

NM_139027.6

p.D343fs

c.1027_1028fs

13 papers

NM_139027.6

p.L342V

c.1024C>G

1 paper

NM_139027.6

p.L342L

c.1024C>T

1 paper

NM_139027.6

p.P341P

c.1023G>A

11 papers

NM_139027.6

p.C347S

c.1039T>A

2 papers

NM_139027.6

p.C347R

c.1039T>C

2 papers

NM_139027.6

p.P341L

c.1022C>T

11 papers

NM_139027.6

p.C347S

c.1040G>C