Varaico: Literature-Extracted Genetic Variants

ADAM17

255 papers

RefSeq Summary

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and ha...

Pfam Domains

Reprolysin_2aa 244–464UCSCMetallo-peptidase family M12B Reprolysin-like

Disintegrinaa 484–558UCSCDisintegrin

ADAM17_MPDaa 581–642UCSCMembrane-proximal domain, switch, for ADAM17

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 17

HGNC Previous Symbol

TACE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003183.6

p.S474N

c.1421G>A

Surrounding Variants

1 paper

NM_003183.6

p.Q471*

c.1411C>T

2 papers

NM_003183.6

p.G479E

c.1436G>A

1 paper

NM_003183.6

p.V483A

c.1448T>C

1 paper

NM_003183.6

p.S464N

c.1391G>A

1 paper

NM_003183.6

p.P491S

c.1471C>T

1 paper

NM_003183.6

p.N498K

c.1494C>G

1 paper

NM_003183.6

p.N498K

c.1494C>A

1 paper

NM_003183.6

p.C506F

c.1517G>T

1 paper

NM_003183.6

p.K448_M449Splc

c.1345-295G>A

1 paper

NM_003183.6

p.S515Splc

c.1545-14C>T

1 paper

NM_003183.6

p.S519G

c.1555A>G

1 paper

NM_003183.6

p.N524D

c.1570A>G