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

1–12 of 107 variants

6 papers

NM_014265.6

p.T593K

c.1778C>A

6 papers

NM_014265.6

p.M684I

c.2052G>A

6 papers

NM_014265.6

p.M684I

c.2052G>C

6 papers

NM_014265.6

p.M684I

c.2052G>T

4 papers

NM_014265.6

p.V765M

c.2293G>A

3 papers

NM_014265.6

p.E340K

c.1018G>A

2 papers

NM_014265.6

p.N75fs

c.223_224fs

2 papers

NM_014265.6

p.H147N

c.439C>A

2 papers

NM_014265.6

p.H178H

c.534C>T

2 papers

NM_014265.6

p.R219S

c.657G>C

2 papers

NM_014265.6

p.R219S

c.657G>T

2 papers

NM_014265.6

p.D328N

c.982G>A