Varaico: Literature-Extracted Genetic Variants

ADAM28

89 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 29–112UCSCReprolysin family propeptide

Reprolysinaa 204–399UCSCReprolysin (M12B) family zinc metalloprotease

Disintegrinaa 416–488UCSCDisintegrin

ADAM_CRaa 493–589UCSCADAM cysteine-rich

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 28

HGNC Alias Symbols

eMDCII; MDC-Lm; MDC-Ls

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_014265.6

p.R219S

c.657G>C

Surrounding Variants

2 papers

NM_014265.6

p.R219S

c.657G>T

1 paper

NM_014265.6

p.M234_N236delFs

c.700_707del8

1 paper

NM_014265.6

p.M234T

c.701T>C

1 paper

NM_014265.6

p.E216_F217Splc

c.648+15T>A

1 paper

NM_014265.6

p.E216_F217insA

c.646_650ins3

1 paper

NM_014265.6

p.E201D

c.603A>C

1 paper

NM_014265.6

p.E201D

c.603A>T

1 paper

NM_014265.6

p.V192_K193Splc

c.577-1G>A

1 paper

NM_014265.6

p.L241F

c.721C>T

1 paper

NM_014265.6

p.A250D

c.749C>A

1 paper

NM_014265.6

p.A250V

c.749C>T

1 paper

NM_014265.6

p.E255K

c.763G>A