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.T105S

c.313A>T

Surrounding Variants

1 paper

NM_033274.5

p.T105S

c.314C>G

1 paper

NM_033274.5

p.Q103E

c.307C>G

1 paper

NM_033274.5

p.P102L

c.305C>T

1 paper

NM_033274.5

p.P102S

c.304C>T

1 paper

NM_033274.5

p.E110fs

c.328_329fs

1 paper

NM_033274.5

p.E84Splc

c.252-1565G>A

1 paper

NM_033274.5

p.E110_D111Splc

c.330+2520T>C

1 paper

NM_033274.5

p.E84Splc

c.252-5352T>G

1 paper

NM_033274.5

p.E84Splc

c.252-5797C>T

1 paper

NM_033274.5

p.H112P

c.335A>C

1 paper

NM_033274.5

p.G117S

c.349G>A

2 papers

NM_033274.5

p.R133Q

c.398G>A