Varaico: Literature-Extracted Genetic Variants

ADAMTS12

163 papers

RefSeq Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a prop...

Pfam Domains

Pep_M12B_propepaa 53–146UCSCReprolysin family propeptide

Reprolysinaa 246–456UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 468–532UCSCADAMTS cysteine-rich domain 2

TSP_1aa 546–596UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 602–701UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 703–813UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 12

HGNC Previous Name

a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12

Papers

RefSeq ID

Protein change

DNA change

1–12 of 347 variants

4 papers

NM_030955.4

p.W1177R

c.3529T>C

4 papers

NM_030955.4

p.W1177R

c.3529T>A

4 papers

NM_030955.4

p.T1495I

c.4484C>T

3 papers

NM_030955.4

p.P1414T

c.4240C>A

2 papers

NM_030955.4

p.T154M

c.461C>T

2 papers

NM_030955.4

p.R240C

c.718C>T

2 papers

NM_030955.4

p.R356H

c.1067G>A

2 papers

NM_030955.4

p.P385S

c.1153C>T

2 papers

NM_030955.4

p.R421C

c.1261C>T

2 papers

NM_030955.4

p.Q422R

c.1265A>G

2 papers

NM_030955.4

p.R705K

c.2114G>A

2 papers

NM_030955.4

p.G763R

c.2287G>C