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.P744insFs

c.2232dupC

Surrounding Variants

1 paper

NM_139027.6

p.P743A

c.2227C>G

1 paper

NM_139027.6

p.P743S

c.2227C>T

1 paper

NM_139027.6

p.P741P

c.2223C>T

1 paper

NM_139027.6

p.E740D

c.2220A>C

1 paper

NM_139027.6

p.E740D

c.2220A>T

6 papers

NM_139027.6

p.E740K

c.2218G>A

1 paper

NM_139027.6

p.L739L

c.2217C>T

1 paper

NM_139027.6

p.L739P

c.2216T>C

1 paper

NM_139027.6

p.V738V

c.2214G>C

1 paper

NM_139027.6

p.V738M

c.2212G>A

1 paper

NM_139027.6

p.C737C

c.2211C>T

2 papers

NM_139027.6

p.C737R

c.2209T>C