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.E225_A226Splc

c.675+9G>A

Surrounding Variants

1 paper

NM_207197.3

p.H223Q

c.669C>G

1 paper

NM_207197.3

p.R206W

c.616C>T

1 paper

NM_207197.3

p.R238H

c.713G>A

3 papers

NM_207197.3

p.L240M

c.718C>A

1 paper

NM_207197.3

p.R256*

c.766C>T

1 paper

NM_207197.3

p.L270L

c.808C>T

1 paper

NM_207197.3

p.R288C

c.862C>T

1 paper

NM_207197.3

p.R289S

c.867G>C

1 paper

NM_207197.3

p.R289S

c.867G>T

1 paper

NM_207197.3

p.P294L

c.881C>T

1 paper

NM_207197.3

p.H298H

c.894T>C

1 paper

NM_207197.3

p.T305N

c.914C>A