Varaico: Literature-Extracted Genetic Variants

ADAM11

93 papers

RefSeq Summary

This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and h...

Pfam Domains

Reprolysinaa 39–238UCSCReprolysin (M12B) family zinc metalloprotease

Pep_M12B_propepaa 46–140UCSCReprolysin family propeptide

Disintegrinaa 253–326UCSCDisintegrin

ADAM_CRaa 331–447UCSCADAM cysteine-rich

EGF_Teneurinaa 484–512UCSCTeneurin-like EGF domain

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 11

HGNC Previous Name

a disintegrin and metalloproteinase domain 11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002390.6

p.G35C

c.103G>T

Surrounding Variants

1 paper

NM_002390.6

p.W33fs

c.97_98fs

1 paper

NM_002390.6

p.W33delFs

c.98delG

1 paper

NM_002390.6

p.A30_L31insFs

c.90_91ins4

1 paper

NM_002390.6

p.P42S

c.124C>T

1 paper

NM_002390.6

p.V47delFs

c.139delG

1 paper

NM_002390.6

p.R63Q

c.188G>A

2 papers

NM_002390.6

p.R72H

c.215G>A

1 paper

NM_002390.6

p.P79delFs

c.235delC

1 paper

NM_002390.6

p.P79_P80Splc

c.237+1G>A

1 paper

NM_002390.6

p.A10T

c.28G>A

1 paper

NM_002390.6

p.P80fs

c.238_239fs

1 paper

NM_002390.6

p.Q85R

c.254A>G