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.G753S

c.2257G>A

Surrounding Variants

2 papers

NM_002390.6

p.G757E

c.2270G>A

1 paper

NM_002390.6

p.A743T

c.2227G>A

1 paper

NM_002390.6

p.A741T

c.2221G>A

1 paper

NM_002390.6

p.I740_I749del0

c.2220_2246del27

2 papers

NM_002390.6

p.T724M

c.2171C>T

1 paper

NM_002390.6

p.E723*

c.2167G>T

1 paper

NM_002390.6

p.P720L

c.2159C>T

1 paper

NM_002390.6

p.D703_W704del2

c.2107_2111del6

1 paper

NM_002390.6

p.R683H

c.2048G>A

1 paper

NM_002390.6

p.D663G

c.1988A>G

1 paper

NM_002390.6

p.L646R

c.1937T>G

1 paper

NM_002390.6

p.A641V

c.1922C>T