Varaico: Literature-Extracted Genetic Variants

ADAM7

82 papers

RefSeq Summary

This gene encodes a member of the ADAMs family of zinc proteases. These transmembrane proteins play roles in multiple processes including cell signaling, adhesion and migration. The encoded protein la...

Pfam Domains

Pep_M12B_propepaa 27–114UCSCReprolysin family propeptide

Reprolysinaa 199–394UCSCReprolysin (M12B) family zinc metalloprotease

Disintegrinaa 411–483UCSCDisintegrin

ADAM_CRaa 488–602UCSCADAM cysteine-rich

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 7

HGNC Alias Symbols

GP-83; EAPI

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003817.4

p.H217N

c.649C>A

Surrounding Variants

1 paper

NM_003817.4

p.R213H

c.638G>A

2 papers

NM_003817.4

p.R213C

c.637C>T

1 paper

NM_003817.4

p.R225*

c.673C>T

2 papers

NM_003817.4

p.R225Q

c.674G>A

1 paper

NM_003817.4

p.H243Y

c.727C>T

1 paper

NM_003817.4

p.H243R

c.728A>G

5 papers

NM_003817.4

p.V244M

c.730G>A

1 paper

NM_003817.4

p.T245A

c.733A>G

1 paper

NM_003817.4

p.T245M

c.734C>T

1 paper

NM_003817.4

p.L246F

c.738G>C

1 paper

NM_003817.4

p.L246F

c.738G>T

1 paper

NM_003817.4

p.W252*

c.755G>A