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.N668Splc

c.2003-1G>T

Surrounding Variants

1 paper

NM_003817.4

p.L676F

c.2026C>T

1 paper

NM_003817.4

p.R691C

c.2071C>T

1 paper

NM_003817.4

p.L698F

c.2094G>C

1 paper

NM_003817.4

p.L698F

c.2094G>T

1 paper

NM_003817.4

p.S703N

c.2108G>A

1 paper

NM_003817.4

p.A659D

c.1976C>A

1 paper

NM_003817.4

p.V658A

c.1973T>C

1 paper

NM_003817.4

p.V658I

c.1972G>A

1 paper

NM_003817.4

p.C651F

c.1952G>T

1 paper

NM_003817.4

p.G710R

c.2128G>A

1 paper

NM_003817.4

p.V711fs

c.2131_2132fs

1 paper

NM_003817.4

p.E639K

c.1915G>A