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

Selected Variant

1 paper

NM_030955.4

p.R1000_L1003del0

c.2999_3007del9

Surrounding Variants

1 paper

NM_030955.4

p.V1002A

c.3005T>C

1 paper

NM_030955.4

p.G1008C

c.3022G>T

1 paper

NM_030955.4

p.N1012D

c.3034A>G

1 paper

NM_030955.4

p.N1015T

c.3044A>C

1 paper

NM_030955.4

p.N1015K

c.3045C>G

1 paper

NM_030955.4

p.N1015K

c.3045C>A

1 paper

NM_030955.4

p.P1016Q

c.3047C>A

1 paper

NM_030955.4

p.R988*

c.2962C>T

1 paper

NM_030955.4

p.V1022I

c.3064G>A

1 paper

NM_030955.4

p.P1024S

c.3070C>T

1 paper

NM_030955.4

p.T982K

c.2945C>A

1 paper

NM_030955.4

p.D980Y

c.2938G>T