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.E456D

c.1368G>T

Surrounding Variants

1 paper

NM_002390.6

p.E456D

c.1368G>C

1 paper

NM_002390.6

p.P445S

c.1333C>T

1 paper

NM_002390.6

p.S467del1

c.1399_1400delAGC

2 papers

NM_002390.6

p.Y422H

c.1264T>C

1 paper

NM_002390.6

p.M484T

c.1451T>C

1 paper

NM_002390.6

p.M484R

c.1451T>G

1 paper

NM_002390.6

p.R493C

c.1477C>T

1 paper

NM_002390.6

p.V507L

c.1519G>C

1 paper

NM_002390.6

p.V507L

c.1519G>T

1 paper

NM_002390.6

p.S520F

c.1559C>T

1 paper

NM_002390.6

p.Y360delFs

c.1078delT

1 paper

NM_002390.6

p.E359E

c.1077G>A