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

42 papers

NM_139027.6

p.R7W

c.19C>T

Surrounding Variants

3 papers

NM_139027.6

p.A8insFs

c.22dupG

1 paper

NM_139027.6

p.R7G

c.19C>G

1 paper

NM_139027.6

p.P6P

c.18C>T

2 papers

NM_139027.6

p.R7Q

c.20G>A

1 paper

NM_139027.6

p.P6R

c.17C>G

1 paper

NM_139027.6

p.P6S

c.16C>T

2 papers

NM_139027.6

p.A8fs

c.22_23fs

2 papers

NM_139027.6

p.H5Q

c.15C>A

1 paper

NM_139027.6

p.A8E

c.23C>A

1 paper

NM_139027.6

p.H5Q

c.15C>G

1 paper

NM_139027.6

p.H5H

c.15C>T

1 paper

NM_139027.6

p.R9K

c.26G>A