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

2 papers

NM_139027.6

p.C438R

c.1312T>C

Surrounding Variants

6 papers

NM_139027.6

p.C438S

c.1312T>A

6 papers

NM_139027.6

p.C438S

c.1313G>C

3 papers

NM_139027.6

p.C438F

c.1313G>T

1 paper

NM_139027.6

p.A437D

c.1310C>A

1 paper

NM_139027.6

p.A437G

c.1310C>G

1 paper

NM_139027.6

p.C438C

c.1314C>T

2 papers

NM_139027.6

p.E439K

c.1315G>A

2 papers

NM_139027.6

p.E439*

c.1315G>T

1 paper

NM_139027.6

p.A437S

c.1309G>T

3 papers

NM_139027.6

p.Q436_A437Splc

c.1309-1G>A

1 paper

NM_139027.6

p.T441S

c.1321A>T

1 paper

NM_139027.6

p.T441S

c.1322C>G