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.S305F

c.914C>T

Surrounding Variants

1 paper

NM_033274.5

p.P315S

c.943C>T

1 paper

NM_033274.5

p.P315L

c.944C>T

1 paper

NM_033274.5

p.P315R

c.944C>G

1 paper

NM_033274.5

p.A340S

c.1018G>T

1 paper

NM_033274.5

p.E346*

c.1036G>T

2 papers

NM_033274.5

p.E346A

c.1037A>C

1 paper

NM_033274.5

p.G369G

c.1107G>A

1 paper

NM_033274.5

p.A374G

c.1121C>G

2 papers

NM_033274.5

p.A298T

c.892G>A

1 paper

NM_033274.5

p.D296H

c.886G>C

1 paper

NM_033274.5

p.A291T

c.871G>A

9 papers

NM_033274.5

p.S284G

c.850A>G