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.K213N

c.639A>C

Surrounding Variants

2 papers

NM_003183.6

p.K213N

c.639A>T

2 papers

NM_003183.6

p.R214G

c.640A>G

3 papers

NM_003183.6

p.R215I

c.644G>T

1 paper

NM_003183.6

p.V212L

c.634G>C

1 paper

NM_003183.6

p.R211Q

c.632G>A

1 paper

NM_003183.6

p.E207A

c.620A>C

1 paper

NM_003183.6

p.C225Y

c.674G>A

1 paper

NM_003183.6

p.D232E

c.696T>G

1 paper

NM_003183.6

p.D232E

c.696T>A

1 paper

NM_003183.6

p.H233Y

c.697C>T

2 papers

NM_003183.6

p.R234H

c.701G>A

1 paper

NM_003183.6

p.G240D

c.719G>A