Varaico: Literature-Extracted Genetic Variants

ADAM15

110 papers

RefSeq Summary

The protein encoded by this gene is a member of the ADAM (a disintegrin and metalloproteinase) protein family. ADAM family members are type I transmembrane glycoproteins known to be involved in cell a...

Pfam Domains

Pep_M12B_propepaa 33–124UCSCReprolysin family propeptide

Reprolysinaa 213–414UCSCReprolysin (M12B) family zinc metalloprotease

Disintegrinaa 430–503UCSCDisintegrin

ADAM_CRaa 508–627UCSCADAM cysteine-rich

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 15

HGNC Alias Symbol

MDC15

Papers

RefSeq ID

Protein change

DNA change

1–12 of 113 variants

11 papers

NM_207197.3

p.K191T

c.572A>C

8 papers

NM_207197.3

p.H201P

c.602A>C

3 papers

NM_207197.3

p.L240M

c.718C>A

3 papers

NM_207197.3

p.P769S

c.2305C>T

2 papers

NM_207197.3

p.G138E

c.413G>A

2 papers

NM_207197.3

p.E349A

c.1046A>C

2 papers

NM_207197.3

p.G405E

c.1214G>A

2 papers

NM_207197.3

p.A543V

c.1628C>T

2 papers

NM_207197.3

p.R562H

c.1685G>A

2 papers

NM_207197.3

p.S714G

c.2140A>G

2 papers

NM_207197.3

p.T732P

c.2194A>C

2 papers

NM_207197.3

p.G741D

c.2222G>A