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.T1032S

c.3095C>G

Surrounding Variants

1 paper

NM_139027.6

p.T1032N

c.3095C>A

1 paper

NM_139027.6

p.T1032S

c.3094A>T

22 papers

NM_139027.6

p.A1033T

c.3097G>A

2 papers

NM_139027.6

p.G1031D

c.3092G>A

1 paper

NM_139027.6

p.G1031_T1032ins11

c.3091_3095ins33

11 papers

NM_139027.6

p.R1034*

c.3100A>T

1 paper

NM_139027.6

p.L1030F

c.3088C>T

2 papers

NM_139027.6

p.R1035C

c.3103C>T

1 paper

NM_139027.6

p.G1029D

c.3086G>A

1 paper

NM_139027.6

p.R1035H

c.3104G>A

6 papers

NM_139027.6

p.S1036*

c.3107C>A

1 paper

NM_139027.6

p.S1036L

c.3107C>T