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.S1323R

c.3969C>G

Surrounding Variants

1 paper

NM_030955.4

p.S1323R

c.3969C>A

1 paper

NM_030955.4

p.S1323R

c.3967A>C

1 paper

NM_030955.4

p.V1319A

c.3956T>C

1 paper

NM_030955.4

p.V1319I

c.3955G>A

1 paper

NM_030955.4

p.L1308L

c.3924C>G

1 paper

NM_030955.4

p.L1308P

c.3923T>C

1 paper

NM_030955.4

p.Y1305C

c.3914A>G

1 paper

NM_030955.4

p.A1302A

c.3906C>T

1 paper

NM_030955.4

p.L1300R

c.3899T>G

1 paper

NM_030955.4

p.L1299V

c.3895T>G

1 paper

NM_030955.4

p.G1297C

c.3889G>T

1 paper

NM_030955.4

p.L1293L

c.3877C>T