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

4 papers

NM_030955.4

p.W1177R

c.3529T>A

Surrounding Variants

4 papers

NM_030955.4

p.W1177R

c.3529T>C

1 paper

NM_030955.4

p.A1187T

c.3559G>A

1 paper

NM_030955.4

p.R1163G

c.3487A>G

1 paper

NM_030955.4

p.M1194K

c.3581T>A

1 paper

NM_030955.4

p.S1159L

c.3476C>T

2 papers

NM_030955.4

p.G1158D

c.3473G>A

1 paper

NM_030955.4

p.P1151L

c.3452C>T

1 paper

NM_030955.4

p.G1150V

c.3449G>T

1 paper

NM_030955.4

p.W1210*

c.3629G>A

1 paper

NM_030955.4

p.W1210*

c.3630G>A

1 paper

NM_030955.4

p.P1212P

c.3636C>A

1 paper

NM_030955.4

p.V1140M

c.3418G>A