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.Q744K

c.2230C>A

Surrounding Variants

1 paper

NM_033274.5

p.R743K

c.2228G>A

2 papers

NM_033274.5

p.S740A

c.2218T>G

1 paper

NM_033274.5

p.Q726E

c.2176C>G

1 paper

NM_033274.5

p.Y721F

c.2162A>T

1 paper

NM_033274.5

p.L717F

c.2149C>T

1 paper

NM_033274.5

p.S699S

c.2097T>C

1 paper

NM_033274.5

p.C748F

c.2243G>T

1 paper

NM_033274.5

p.C748Y

c.2243G>A

1 paper

NM_033274.5

p.F750F

c.2250C>T

1 paper

NM_033274.5

p.H760Y

c.2278C>T

1 paper

NM_033274.5

p.T769M

c.2306C>T

1 paper

NM_033274.5

p.E698Q

c.2092G>C