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

3 papers

NM_033274.5

p.G508S

c.1522G>A

Surrounding Variants

1 paper

NM_033274.5

p.G503D

c.1508G>A

1 paper

NM_033274.5

p.Q500*

c.1498C>T

1 paper

NM_033274.5

p.C487F

c.1460G>T

1 paper

NM_033274.5

p.P484R

c.1451C>G

1 paper

NM_033274.5

p.L473M

c.1417C>A

1 paper

NM_033274.5

p.G532Splc

c.1595-152T>C

1 paper

NM_033274.5

p.T550T

c.1650C>T

1 paper

NM_033274.5

p.E455D

c.1365G>T

1 paper

NM_033274.5

p.E455D

c.1365G>C

1 paper

NM_033274.5

p.A454V

c.1361C>T

1 paper

NM_033274.5

p.S446P

c.1336T>C

1 paper

NM_033274.5

p.N440K

c.1320C>G