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.L22L

c.64C>T

Surrounding Variants

1 paper

NM_001288973.2

p.A21D

c.62C>A

1 paper

NM_001288973.2

p.A19S

c.55G>T

1 paper

NM_001288973.2

p.L16L

c.48C>G

1 paper

NM_001288973.2

p.A11D

c.32C>A

1 paper

NM_001288973.2

p.S9Y

c.26C>A

2 papers

NM_001288973.2

p.M1R

c.2T>G