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.C606S

c.1816T>A

Surrounding Variants

1 paper

NM_014265.6

p.C606S

c.1817G>C

1 paper

NM_014265.6

p.V600V

c.1800G>T

6 papers

NM_014265.6

p.T593K

c.1778C>A

1 paper

NM_014265.6

p.D589N

c.1765G>A

2 papers

NM_014265.6

p.R578W

c.1732C>T

1 paper

NM_014265.6

p.K563M

c.1688A>T

1 paper

NM_014265.6

p.D558D

c.1674T>C

1 paper

NM_014265.6

p.C639Y

c.1916G>A

1 paper

NM_014265.6

p.W651*

c.1952G>A

1 paper

NM_014265.6

p.W651*

c.1953G>A

1 paper

NM_014265.6

p.R545C

c.1633C>T

1 paper

NM_014265.6

p.G542E

c.1625G>A