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.I580delFs

c.1739delA

Surrounding Variants

1 paper

NM_001288973.2

p.I580fs

c.1738_1739fs

2 papers

NM_001288973.2

p.K576N

c.1728A>T

1 paper

NM_001288973.2

p.K576N

c.1728A>C

1 paper

NM_003474.6

p.T596A

c.1786A>G

1 paper

NM_001288973.2

p.N594S

c.1781A>G

1 paper

NM_001288973.2

p.V596I

c.1786G>A

1 paper

NM_001288973.2

p.P603P

c.1809C>T

1 paper

NM_001288973.2

p.Q605L

c.1814A>T

1 paper

NM_003474.6

p.R612Q

c.1835G>A

1 paper

NM_001288973.2

p.D621N

c.1861G>A

1 paper

NM_003474.6

p.M626T

c.1877T>C

1 paper

NM_001288973.2

p.E571K

c.1711G>A