Varaico: Literature-Extracted Genetic Variants

ADAM12

95 papers

RefSeq Summary

This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-...

Pfam Domains

Pep_M12B_propepaa 44–126UCSCReprolysin family propeptide

Reprolysinaa 214–416UCSCReprolysin (M12B) family zinc metalloprotease

Disintegrinaa 433–505UCSCDisintegrin

ADAM_CRaa 510–630UCSCADAM cysteine-rich

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 12

HGNC Alias Symbols

MCMPMltna; MLTN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001288973.2

p.L397L

c.1191G>A

Surrounding Variants

2 papers

NM_003474.6

p.G479E

c.1436G>A

2 papers

NM_001288973.2

p.C479Y

c.1436G>A

1 paper

NM_001288973.2

p.S485C

c.1454C>G

1 paper

NM_001288973.2

p.L488H

c.1463T>A

1 paper

NM_001288973.2

p.C499Fs

c.1496delinsATFs

1 paper

NM_001288973.2

p.D507N

c.1519G>A

1 paper

NM_001288973.2

p.D507A

c.1520A>C

1 paper

NM_001288973.2

p.H509Y

c.1525C>T

2 papers

NM_001288973.2

p.G516S

c.1546G>A