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

2 papers

NM_139027.6

p.C1067fs

c.3199_3200fs

Surrounding Variants

1 paper

NM_139027.6

p.C1067S

c.3199T>A

3 papers

NM_139027.6

p.P1066_C1067delFs

c.3198_3199delCT

1 paper

NM_139027.6

p.C1067*

c.3201T>A

1 paper

NM_139027.6

p.P1066T

c.3196C>A

1 paper

NM_139027.6

p.V1065V

c.3195C>G

1 paper

NM_139027.6

p.P1066delFs

c.3198delC

1 paper

NM_139027.6

p.V1065F

c.3193G>T

1 paper

NM_139027.6

p.I1069N

c.3206T>A

1 paper

NM_139027.6

p.S1064S

c.3192T>C

1 paper

NM_139027.6

p.I1069T

c.3206T>C

1 paper

NM_139027.6

p.A1070T

c.3208G>A

1 paper

NM_139027.6

p.A1070A

c.3210C>T