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.A785S

c.2353G>T

Surrounding Variants

1 paper

NM_207197.3

p.A785T

c.2353G>A

1 paper

NM_207197.3

p.A800T

c.2398G>A

1 paper

NM_207197.3

p.Q784_A785Splc

c.2352+54C>A

1 paper

NM_207197.3

p.A824T

c.2470G>A

1 paper

NM_207197.3

p.Q827R

c.2480A>G

1 paper

NM_207197.3

p.S832*

c.2495C>A

1 paper

NM_207197.3

p.P770T

c.2308C>A

1 paper

NM_207197.3

p.P770fs

c.2308_2309fs

1 paper

NM_207197.3

p.P769L

c.2306C>T

3 papers

NM_207197.3

p.P769S

c.2305C>T

1 paper

NM_207197.3

p.A768delFs

c.2303delC

1 paper

NM_207197.3

p.P767L

c.2300C>T