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.C14_V15delFs

c.42_45del4

Surrounding Variants

1 paper

NM_139027.6

p.C14S

c.40T>A

1 paper

NM_139027.6

p.C14S

c.41G>C

1 paper

NM_139027.6

p.C14insFs

c.41_42ins5

1 paper

NM_139027.6

p.C14F

c.41G>T

1 paper

NM_139027.6

p.P12P

c.36C>T

1 paper

NM_139027.6

p.P12L

c.35C>T

1 paper

NM_139027.6

p.A16delFs

c.46delG

1 paper

NM_139027.6

p.P11P

c.33T>G

1 paper

NM_139027.6

p.P12_L13insFs

c.36_37dupCC

2 papers

NM_139027.6

p.A16A

c.48C>T

1 paper

NM_139027.6

p.C10C

c.30C>T

1 paper

NM_139027.6

p.G17R

c.49G>A