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

1–12 of 216 variants

12 papers

NM_003183.6

p.S747L

c.2240C>T

8 papers

NM_003183.6

p.V673I

c.2017G>A

6 papers

NM_003183.6

p.I50V

c.148A>G

5 papers

NM_003183.6

p.S245R

c.735T>A

5 papers

NM_003183.6

p.M435I

c.1305G>T

5 papers

NM_003183.6

p.M435I

c.1305G>C

5 papers

NM_003183.6

p.M435I

c.1305G>A

4 papers

NM_003183.6

p.R202G

c.604A>G

4 papers

NM_003183.6

p.E406A

c.1217A>C

4 papers

NM_003183.6

p.C600Y

c.1799G>A

4 papers

NM_003183.6

p.T735A

c.2203A>G

3 papers

NM_003183.6

p.Q52K

c.154C>A