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

2 papers

NM_033274.5

p.R792W

c.2374C>T

Surrounding Variants

1 paper

NM_033274.5

p.R799H

c.2396G>A

1 paper

NM_033274.5

p.A805T

c.2413G>A

1 paper

NM_033274.5

p.P821P

c.2463C>T

1 paper

NM_033274.5

p.E829K

c.2485G>A

1 paper

NM_033274.5

p.P834A

c.2500C>G

1 paper

NM_033274.5

p.R838L

c.2513G>T

1 paper

NM_033274.5

p.P842insFs

c.2526dupC

1 paper

NM_033274.5

p.A843T

c.2527G>A

1 paper

NM_033274.5

p.A843fs

c.2527_2528fs

1 paper

NM_033274.5

p.P844T

c.2530C>A

1 paper

NM_033274.5

p.T769M

c.2306C>T

1 paper

NM_033274.5

p.H760Y

c.2278C>T