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.P591H

c.1772C>A

Surrounding Variants

1 paper

NM_033274.5

p.S587F

c.1760C>T

1 paper

NM_033274.5

p.S587T

c.1759T>A

1 paper

NM_033274.5

p.E586D

c.1758G>T

1 paper

NM_033274.5

p.E586D

c.1758G>C

1 paper

NM_033274.5

p.E586G

c.1757A>G

1 paper

NM_033274.5

p.E586A

c.1757A>C

1 paper

NM_033274.5

p.E586Q

c.1756G>C

1 paper

NM_033274.5

p.R606W

c.1816C>T

1 paper

NM_033274.5

p.C572Y

c.1715G>A

1 paper

NM_033274.5

p.C572R

c.1714T>C

1 paper

NM_033274.5

p.G618C

c.1852G>T

1 paper

NM_033274.5

p.H636_I637Splc

c.1908+175G>A