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.N598H

c.1792A>C

Surrounding Variants

1 paper

NM_003183.6

p.S599S

c.1797C>T

4 papers

NM_003183.6

p.C600Y

c.1799G>A

1 paper

NM_003183.6

p.S608S

c.1824T>C

1 paper

NM_003183.6

p.C611C

c.1833T>C

2 papers

NM_003183.6

p.D616N

c.1846G>A

1 paper

NM_003183.6

p.A617V

c.1850C>T

1 paper

NM_003183.6

p.K620N

c.1860G>T

1 paper

NM_003183.6

p.K620N

c.1860G>C

1 paper

NM_003183.6

p.R625G

c.1873A>G

1 paper

NM_003183.6

p.K628E

c.1882A>G

1 paper

NM_003183.6

p.C630Y

c.1889G>A

1 paper

NM_003183.6

p.P629_C630delFs

c.1887_1888delAG