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

2 papers

NM_030955.4

p.P1423S

c.4267C>T

Surrounding Variants

1 paper

NM_030955.4

p.E1422E

c.4266G>A

2 papers

NM_030955.4

p.E1422Q

c.4264G>C

1 paper

NM_030955.4

p.A1426S

c.4276G>T

1 paper

NM_030955.4

p.A1426A

c.4278G>A

1 paper

NM_030955.4

p.M1417I

c.4251G>T

1 paper

NM_030955.4

p.M1417I

c.4251G>C

1 paper

NM_030955.4

p.M1417I

c.4251G>A

1 paper

NM_030955.4

p.V1429G

c.4286T>G

3 papers

NM_030955.4

p.P1414T

c.4240C>A

1 paper

NM_030955.4

p.Q1434_C1435Splc

c.4302+2T>C

1 paper

NM_030955.4

p.G1410D

c.4229G>A

1 paper

NM_030955.4

p.A1409A

c.4227C>T