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.F176L

c.528C>A

Surrounding Variants

1 paper

NM_033274.5

p.F176F

c.528C>T

1 paper

NM_033274.5

p.F176L

c.528C>G

1 paper

NM_033274.5

p.F176L

c.526T>C

1 paper

NM_033274.5

p.G157C

c.469G>T

1 paper

NM_033274.5

p.R199H

c.596G>A

1 paper

NM_033274.5

p.S146R

c.438C>G

1 paper

NM_033274.5

p.L206S

c.617T>C

1 paper

NM_033274.5

p.M209V

c.625A>G

1 paper

NM_033274.5

p.E222Q

c.664G>C

1 paper

NM_033274.5

p.E222_F223Splc

c.666+1160G>A

1 paper

NM_033274.5

p.R227L

c.680G>T

1 paper

NM_033274.5

p.R136Splc

c.407+4475G>A