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

1–12 of 125 variants

5 papers

NM_003817.4

p.V244M

c.730G>A

4 papers

NM_003817.4

p.N638H

c.1912A>C

3 papers

NM_003817.4

p.V358M

c.1072G>A

2 papers

NM_003817.4

p.R31C

c.91C>T

2 papers

NM_003817.4

p.L75P

c.224T>C

2 papers

NM_003817.4

p.Y140H

c.418T>C

2 papers

NM_003817.4

p.R213C

c.637C>T

2 papers

NM_003817.4

p.R225Q

c.674G>A

2 papers

NM_003817.4

p.G302E

c.905G>A

2 papers

NM_003817.4

p.C473S

c.1417T>A

2 papers

NM_003817.4

p.C473S

c.1418G>C

2 papers

NM_003817.4

p.G489E

c.1466G>A