Varaico: Literature-Extracted Genetic Variants

ADAM20

21 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

Pep_M12B_propepaa 29–116UCSCReprolysin family propeptide

Reprolysinaa 207–399UCSCReprolysin (M12B) family zinc metalloprotease

Disintegrinaa 416–488UCSCDisintegrin

ADAM_CRaa 493–606UCSCADAM cysteine-rich

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 20

HGNC Previous Name

a disintegrin and metalloproteinase domain 20

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003814.5

p.R643insFs

c.1928dupG

Surrounding Variants

1 paper

NM_003814.5

p.C640F

c.1919G>T

1 paper

NM_003814.5

p.C640Y

c.1919G>A

1 paper

NM_003814.5

p.G670D

c.2009G>A

1 paper

NM_003814.5

p.P678L

c.2033C>T

1 paper

NM_003814.5

p.G593S

c.1777G>A

1 paper

NM_003814.5

p.W555*

c.1665G>A

1 paper

NM_003814.5

p.W555*

c.1664G>A

1 paper

NM_003814.5

p.D330D

c.990C>T

1 paper

NM_003814.5

p.N286N

c.858C>T

1 paper

NM_003814.5

p.N286Y

c.856A>T

1 paper

NM_003814.5

p.I257F

c.769A>T

1 paper

NM_003814.5

p.Q224E

c.670C>G