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.C387*

c.1161C>A

Surrounding Variants

1 paper

NM_033274.5

p.F384L

c.1152C>G

1 paper

NM_033274.5

p.F384L

c.1152C>A

1 paper

NM_033274.5

p.F384L

c.1150T>C

1 paper

NM_033274.5

p.P381delFs

c.1143delG

1 paper

NM_033274.5

p.P381fs

c.1141_1142fs

1 paper

NM_033274.5

p.N421N

c.1263C>T

1 paper

NM_033274.5

p.D426N

c.1276G>A

1 paper

NM_033274.5

p.E434K

c.1300G>A

3 papers

NM_033274.5

p.E435K

c.1303G>A

1 paper

NM_033274.5

p.G377Splc

c.1131-796G>C

1 paper

NM_033274.5

p.E436_E437Splc

c.1309-1205G>A

1 paper

NM_033274.5

p.A374G

c.1121C>G