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.I81M

c.243A>G

Surrounding Variants

1 paper

NM_001288973.2

p.S76N

c.227G>A

1 paper

NM_001288973.2

p.R74R

c.222G>A

2 papers

NM_001288973.2

p.E66K

c.196G>A

1 paper

NM_001288973.2

p.E87Splc

c.260+6001A>C