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

Selected Variant

1 paper

NM_207197.3

p.C468R

c.1402T>C

Surrounding Variants

1 paper

NM_207197.3

p.Q460R

c.1379A>G

1 paper

NM_207197.3

p.Q472_L473Splc

c.1416+26C>T

1 paper

NM_207197.3

p.R474C

c.1420C>T

1 paper

NM_207197.3

p.P475L

c.1424C>T

1 paper

NM_207197.3

p.W478R

c.1432T>C

1 paper

NM_207197.3

p.C480_G495del16

c.1438_1484del48

1 paper

NM_207197.3

p.R481H

c.1442G>A

1 paper

NM_207197.3

p.D488A

c.1463A>C

1 paper

NM_207197.3

p.V504G

c.1511T>G

1 paper

NM_207197.3

p.Y527F

c.1580A>T

1 paper

NM_207197.3

p.G536E

c.1607G>A

2 papers

NM_207197.3

p.A543V

c.1628C>T