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

2 papers

NM_207197.3

p.G405E

c.1214G>A

Surrounding Variants

1 paper

NM_207197.3

p.G405R

c.1213G>A

1 paper

NM_207197.3

p.G405R

c.1213G>C

1 paper

NM_207197.3

p.F411F

c.1233C>T

1 paper

NM_207197.3

p.R395*

c.1183C>T

1 paper

NM_207197.3

p.P419A

c.1255C>G

1 paper

NM_207197.3

p.M427K

c.1280T>A

1 paper

NM_207197.3

p.F428L

c.1282T>C

1 paper

NM_207197.3

p.F428L

c.1284T>A

1 paper

NM_207197.3

p.F428L

c.1284T>G

2 papers

NM_207197.3

p.E349A

c.1046A>C

1 paper

NM_207197.3

p.S336S

c.1008C>A

1 paper

NM_207197.3

p.D334Y

c.1000G>T