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.F59L

c.177C>A

Surrounding Variants

1 paper

NM_001288973.2

p.F59L

c.177C>G

1 paper

NM_001288973.2

p.D60N

c.178G>A

1 paper

NM_001288973.2

p.F59L

c.175T>C

1 paper

NM_001288973.2

p.P55S

c.163C>T

1 paper

NM_001288973.2

p.W53C

c.159G>T

1 paper

NM_001288973.2

p.W53C

c.159G>C

1 paper

NM_001288973.2

p.D51G

c.152A>G

8 papers

NM_001288973.2

p.G48R

c.142G>C

6 papers

NM_001288973.2

p.G48R

c.142G>A

1 paper

NM_001288973.2

p.V42A

c.125T>C

1 paper

NM_001288973.2

p.G37R

c.109G>C

1 paper

NM_001288973.2

p.G37R

c.109G>A