Varaico: Literature-Extracted Genetic Variants

ADAM19

106 papers

RefSeq Summary

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and hav...

Pfam Domains

Pep_M12B_propepaa 34–120UCSCReprolysin family propeptide

Reprolysinaa 210–408UCSCReprolysin (M12B) family zinc metalloprotease

Disintegrinaa 425–497UCSCDisintegrin

ADAM_CRaa 502–622UCSCADAM cysteine-rich

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 19

HGNC Alias Symbol

MLTNB

Papers

RefSeq ID

Protein change

DNA change

1–12 of 146 variants

9 papers

NM_033274.5

p.S284G

c.850A>G

4 papers

NM_033274.5

p.G660D

c.1979G>A

3 papers

NM_033274.5

p.E435K

c.1303G>A

3 papers

NM_033274.5

p.G508S

c.1522G>A

2 papers

NM_033274.5

p.G4S

c.10G>A

2 papers

NM_033274.5

p.L63F

c.187C>T

2 papers

NM_033274.5

p.R133Q

c.398G>A

2 papers

NM_033274.5

p.A298T

c.892G>A

2 papers

NM_033274.5

p.E346A

c.1037A>C

2 papers

NM_033274.5

p.P694S

c.2080C>T

2 papers

NM_033274.5

p.S740A

c.2218T>G

2 papers

NM_033274.5

p.R792W

c.2374C>T