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.K759_Q760Splc

c.2277+3G>A

Surrounding Variants

1 paper

NM_207197.3

p.P742L

c.2225C>T

2 papers

NM_207197.3

p.G741D

c.2222G>A

1 paper

NM_207197.3

p.Y735F

c.2204A>T

2 papers

NM_207197.3

p.T732P

c.2194A>C

1 paper

NM_207197.3

p.C726Y

c.2177G>A

1 paper

NM_207197.3

p.R724Q

c.2171G>A

1 paper

NM_207197.3

p.R718C

c.2152C>T

1 paper

NM_207197.3

p.Y715F

c.2144A>T

2 papers

NM_207197.3

p.S714G

c.2140A>G

1 paper

NM_207197.3

p.Q760*

c.2278C>T

1 paper

NM_207197.3

p.A761S

c.2281G>T

1 paper

NM_207197.3

p.V704I

c.2110G>A