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

2 papers

NM_003183.6

p.R725H

c.2174G>A

Surrounding Variants

1 paper

NM_003183.6

p.P729H

c.2186C>A

4 papers

NM_003183.6

p.T735A

c.2203A>G

1 paper

NM_003183.6

p.R738C

c.2212C>T

1 paper

NM_003183.6

p.S711_N712Splc

c.2134-11T>C

1 paper

NM_003183.6

p.P746L

c.2237C>T

12 papers

NM_003183.6

p.S747L

c.2240C>T

1 paper

NM_003183.6

p.A748V

c.2243C>T

1 paper

NM_003183.6

p.A750P

c.2248G>C

1 paper

NM_003183.6

p.D794del1

c.2380_2381delATC

1 paper

NM_003183.6

p.T796P

c.2386A>C

1 paper

NM_003183.6

p.K805T

c.2414A>C

1 paper

NM_003183.6

p.R813C

c.2437C>T