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.G121R

c.361G>A

Surrounding Variants

1 paper

NM_002390.6

p.G121R

c.361G>C

1 paper

NM_002390.6

p.F117L

c.351C>G

1 paper

NM_002390.6

p.S126R

c.378C>A

1 paper

NM_002390.6

p.H106Y

c.316C>T

1 paper

NM_002390.6

p.H105Splc

c.314+1G>T

1 paper

NM_002390.6

p.F93L

c.279C>A

1 paper

NM_002390.6

p.F93L

c.279C>G

1 paper

NM_002390.6

p.F93L

c.277T>C

1 paper

NM_002390.6

p.I90_P91ins4

c.268_272ins12

1 paper

NM_002390.6

p.S87N

c.260G>A

1 paper

NM_002390.6

p.Q85R

c.254A>G

1 paper

NM_002390.6

p.Q85L

c.254A>T