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

5 papers

NM_003183.6

p.M435I

c.1305G>A

Surrounding Variants

5 papers

NM_003183.6

p.M435I

c.1305G>T

5 papers

NM_003183.6

p.M435I

c.1305G>C

1 paper

NM_003183.6

p.K432_V434del3

c.1294_1301del9

1 paper

NM_003183.6

p.M435L

c.1303A>T

1 paper

NM_003183.6

p.M435L

c.1303A>C

1 paper

NM_003183.6

p.D428N

c.1282G>A

1 paper

NM_003183.6

p.P417L

c.1250C>T

1 paper

NM_003183.6

p.P417Q

c.1250C>A

4 papers

NM_003183.6

p.E406A

c.1217A>C

1 paper

NM_003183.6

p.E406*

c.1216G>T

1 paper

NM_003183.6

p.K448_M449Splc

c.1345-295G>A

1 paper

NM_003183.6

p.S464N

c.1391G>A