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

2 papers

NM_033274.5

p.L63F

c.187C>T

Surrounding Variants

1 paper

NM_033274.5

p.R74*

c.220C>T

1 paper

NM_033274.5

p.E75Q

c.223G>C

1 paper

NM_033274.5

p.L78L

c.234G>T

1 paper

NM_033274.5

p.E84Splc

c.251+20G>A

1 paper

NM_033274.5

p.E84Splc

c.251+2261G>A

1 paper

NM_033274.5

p.K60_H61Splc

c.181-2580G>A

1 paper

NM_033274.5

p.E84Splc

c.251+2794C>A

1 paper

NM_033274.5

p.S38G

c.112A>G