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.C710W

c.2130C>G

Surrounding Variants

2 papers

NM_139027.6

p.D712H

c.2134G>C

1 paper

NM_139027.6

p.S709C

c.2125A>T

1 paper

NM_139027.6

p.Q713delFs

c.2137delC

1 paper

NM_139027.6

p.D712E

c.2136C>A

1 paper

NM_139027.6

p.D712E

c.2136C>G

2 papers

NM_139027.6

p.Y708_S709insG

c.2122_2126ins3

2 papers

NM_139027.6

p.W705*

c.2115G>A

2 papers

NM_139027.6

p.W705*

c.2114G>A

1 paper

NM_139027.6

p.R704R

c.2112C>T

2 papers

NM_139027.6

p.R704H

c.2111G>A

1 paper

NM_139027.6

p.R704L

c.2111G>T

1 paper

NM_139027.6

p.R704C

c.2110C>T