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.V722L

c.2164G>C

Surrounding Variants

1 paper

NM_139027.6

p.C724_Q729del6

c.2170_2186del18

11 papers

NM_139027.6

p.Q723K

c.2167C>A

1 paper

NM_139027.6

p.Q723*

c.2167C>T

1 paper

NM_139027.6

p.E720E

c.2160G>A

1 paper

NM_139027.6

p.Q725delFs

c.2173delC

1 paper

NM_139027.6

p.Q725E

c.2173C>G

1 paper

NM_139027.6

p.Q725*

c.2173C>T

1 paper

NM_139027.6

p.Q725fs

c.2173_2174fs

1 paper

NM_139027.6

p.V719M

c.2155G>A

1 paper

NM_139027.6

p.Q725R

c.2174A>G

3 papers

NM_139027.6

p.V719_C724del6

c.2155_2171del18

1 paper

NM_139027.6

p.Q725Q

c.2175A>G