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.F445fs

c.1333_1334fs

Surrounding Variants

1 paper

NM_139027.6

p.F445V

c.1333T>G

2 papers

NM_139027.6

p.F445delFs

c.1335delC

3 papers

NM_139027.6

p.E444G

c.1331A>G

1 paper

NM_139027.6

p.F445F

c.1335C>T

2 papers

NM_139027.6

p.M446V

c.1336A>G

1 paper

NM_139027.6

p.E444*

c.1330G>T

1 paper

NM_139027.6

p.M446I

c.1338G>A

1 paper

NM_139027.6

p.M446I

c.1338G>C

1 paper

NM_139027.6

p.M446I

c.1338G>T

2 papers

NM_139027.6

p.L443P

c.1328T>C

2 papers

NM_139027.6

p.L443M

c.1327C>A

1 paper

NM_139027.6

p.S447L

c.1340C>T