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

1 paper

NM_014265.6

p.Q324E

c.970C>G

Surrounding Variants

1 paper

NM_014265.6

p.V322I

c.964G>A

1 paper

NM_014265.6

p.A309E

c.926C>A

1 paper

NM_014265.6

p.R289H

c.866G>A

1 paper

NM_014265.6

p.G281R

c.841G>A

1 paper

NM_014265.6

p.W279C

c.837G>C

1 paper

NM_014265.6

p.W279C

c.837G>T

1 paper

NM_014265.6

p.A269E

c.806C>A

1 paper

NM_014265.6

p.W257_D259delFs

c.770_776del7

1 paper

NM_014265.6

p.E255K

c.763G>A

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.L241F

c.721C>T