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.S675A

c.2023T>G

Surrounding Variants

1 paper

NM_003183.6

p.V673F

c.2017G>T

8 papers

NM_003183.6

p.V673I

c.2017G>A

1 paper

NM_003183.6

p.V678F

c.2032G>T

1 paper

NM_003183.6

p.N671S

c.2012A>G

1 paper

NM_003183.6

p.S680F

c.2039C>T

1 paper

NM_003183.6

p.L668S

c.2003T>C

1 paper

NM_003183.6

p.F683L

c.2047T>C

1 paper

NM_003183.6

p.F683L

c.2049T>G

1 paper

NM_003183.6

p.F683L

c.2049T>A

1 paper

NM_003183.6

p.H692Y

c.2074C>T

1 paper

NM_003183.6

p.C693Y

c.2078G>A

1 paper

NM_003183.6

p.C693C

c.2079T>C