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.L335F

c.1003C>T

Surrounding Variants

1 paper

NM_139026.6

p.A303A

c.909C>T

1 paper

NM_139027.6

p.S336_L342insFs

c.1007_1025dup19

1 paper

NM_139027.6

p.A334V

c.1001C>T

1 paper

NM_139027.6

p.S336P

c.1006T>C

1 paper

NM_139027.6

p.S336F

c.1007C>T

1 paper

NM_139027.6

p.Q333Q

c.999G>A

1 paper

NM_139026.6

p.C306C

c.918C>T

1 paper

NM_139027.6

p.H338_P341del0

c.1012_1023del12

1 paper

NM_139027.6

p.H338Y

c.1012C>T

1 paper

NM_139027.6

p.C332R

c.994T>C

13 papers

NM_139027.6

p.T339R

c.1016C>G

1 paper

NM_139027.6

p.D330D

c.990T>C