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

Selected Variant

1 paper

NM_033274.5

p.D231N

c.691G>A

Surrounding Variants

1 paper

NM_033274.5

p.D231D

c.693C>T

1 paper

NM_033274.5

p.R228G

c.682C>G

1 paper

NM_033274.5

p.R227L

c.680G>T

1 paper

NM_033274.5

p.I238L

c.712A>T

1 paper

NM_033274.5

p.I238L

c.712A>C

1 paper

NM_033274.5

p.A241V

c.722C>T

1 paper

NM_033274.5

p.K246_F247Splc

c.739-1852C>T

1 paper

NM_033274.5

p.K246_F247Splc

c.739-74C>A

1 paper

NM_033274.5

p.R254L

c.761G>T

1 paper

NM_033274.5

p.V258M

c.772G>A

1 paper

NM_033274.5

p.N274D

c.820A>G

1 paper

NM_033274.5

p.N274T

c.821A>C