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

2 papers

NM_003474.6

p.L792F

c.2376G>T

Surrounding Variants

2 papers

NM_003474.6

p.L792F

c.2376G>C

1 paper

NM_001288973.2

p.R814*

c.2440C>T

1 paper

NM_001288973.2

p.P817S

c.2449C>T

1 paper

NM_001288973.2

p.R824H

c.2471G>A

1 paper

NM_001288973.2

p.G769E

c.2306G>A

1 paper

NM_001288973.2

p.K729N

c.2187G>T

1 paper

NM_001288973.2

p.K729N

c.2187G>C

1 paper

NM_001288973.2

p.G721R

c.2161G>C

1 paper

NM_001288973.2

p.G721R

c.2161G>A

1 paper

NM_003474.6

p.G712E

c.2135G>A

2 papers

NM_001288973.2

p.E676K

c.2026G>A

1 paper

NM_003474.6

p.G668A

c.2003G>C