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.A148T

c.442G>A

Surrounding Variants

1 paper

NM_002390.6

p.S150Y

c.449C>A

1 paper

NM_002390.6

p.H156delFs

c.467delA

1 paper

NM_002390.6

p.D131N

c.391G>A

1 paper

NM_002390.6

p.V158I

c.472G>A

1 paper

NM_002390.6

p.F159L

c.475T>C

1 paper

NM_002390.6

p.F159L

c.477C>A

1 paper

NM_002390.6

p.F159L

c.477C>G

1 paper

NM_002390.6

p.Q171*

c.511C>T

1 paper

NM_002390.6

p.V173G

c.518T>G

1 paper

NM_002390.6

p.Q181_G182Splc

c.543+105C>T

1 paper

NM_002390.6

p.R190R

c.570G>A

2 papers

NM_002390.6

p.C200R

c.598T>C