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.Y147C

c.440A>G

Surrounding Variants

1 paper

NM_003817.4

p.Y147S

c.440A>C

1 paper

NM_003817.4

p.Y140F

c.419A>T

1 paper

NM_003817.4

p.L154L

c.462G>A

2 papers

NM_003817.4

p.Y140H

c.418T>C

1 paper

NM_003817.4

p.N136N

c.408C>T

1 paper

NM_003817.4

p.R134K

c.401G>A

1 paper

NM_003817.4

p.P163L

c.488C>T

1 paper

NM_003817.4

p.G131R

c.391G>A

1 paper

NM_003817.4

p.Y168F

c.503A>T

1 paper

NM_003817.4

p.L173P

c.518T>C

1 paper

NM_003817.4

p.V180A

c.539T>C

1 paper

NM_003817.4

p.D183E

c.549T>A