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.L302H

c.905T>A

Surrounding Variants

1 paper

NM_001288973.2

p.L302L

c.906T>C

2 papers

NM_003474.6

p.D301H

c.901G>C

1 paper

NM_001288973.2

p.E262K

c.784G>A

1 paper

NM_003474.6

p.I257F

c.769A>T

1 paper

NM_001288973.2

p.T312T

c.936C>T

1 paper

NM_001288973.2

p.V331V

c.993C>A

1 paper

NM_001288973.2

p.M332L

c.994A>T

1 paper

NM_001288973.2

p.M332L

c.994A>C

2 papers

NM_003474.6

p.E351Q

c.1051G>C

1 paper

NM_003474.6

p.A222V

c.665C>T