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

1–12 of 99 variants

8 papers

NM_001288973.2

p.G48R

c.142G>C

6 papers

NM_001288973.2

p.G48R

c.142G>A

2 papers

NM_001288973.2

p.M1R

c.2T>G

2 papers

NM_001288973.2

p.E66K

c.196G>A

2 papers

NM_003474.6

p.D301H

c.901G>C

2 papers

NM_003474.6

p.G479E

c.1436G>A

2 papers

NM_001288973.2

p.C479Y

c.1436G>A

2 papers

NM_001288973.2

p.G516S

c.1546G>A

2 papers

NM_001288973.2

p.K576N

c.1728A>T

2 papers

NM_001288973.2

p.E676K

c.2026G>A

2 papers

NM_003474.6

p.L792F

c.2376G>T

2 papers

NM_003474.6

p.L792F

c.2376G>C