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.D304H

c.910G>C

Surrounding Variants

1 paper

NM_002390.6

p.L305F

c.913C>T

1 paper

NM_002390.6

p.V301V

c.903G>A

1 paper

NM_002390.6

p.E307*

c.919G>T

1 paper

NM_002390.6

p.A294G

c.881C>G

1 paper

NM_002390.6

p.R316*

c.946C>T

1 paper

NM_002390.6

p.E322D

c.966G>C

1 paper

NM_002390.6

p.E322D

c.966G>T

1 paper

NM_002390.6

p.Q280H

c.840G>C

1 paper

NM_002390.6

p.Q280H

c.840G>T

1 paper

NM_002390.6

p.Y277*

c.831C>A

1 paper

NM_002390.6

p.Y277*

c.831C>G

1 paper

NM_002390.6

p.V275_I276Splc

c.826-2A>C