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.S40*

c.119C>A

Surrounding Variants

1 paper

NM_003183.6

p.S40*

c.119C>G

1 paper

NM_003183.6

p.L39F

c.115C>T

1 paper

NM_003183.6

p.Y42D

c.124T>G

1 paper

NM_003183.6

p.Y42H

c.124T>C

1 paper

NM_003183.6

p.Y42N

c.124T>A

1 paper

NM_003183.6

p.I44insFs

c.131_132dupTT

1 paper

NM_003183.6

p.S48_N49delFs

c.144_145delTA

6 papers

NM_003183.6

p.I50V

c.148A>G

3 papers

NM_003183.6

p.Q52K

c.154C>A

1 paper

NM_003183.6

p.S54L

c.161C>T

1 paper

NM_003183.6

p.R56*

c.166A>T

3 papers

NM_003183.6

p.R58G

c.172A>G