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

6 papers

NM_014265.6

p.M684I

c.2052G>A

Surrounding Variants

6 papers

NM_014265.6

p.M684I

c.2052G>C

6 papers

NM_014265.6

p.M684I

c.2052G>T

1 paper

NM_014265.6

p.M684L

c.2050A>C

1 paper

NM_014265.6

p.M684L

c.2050A>T

1 paper

NM_014265.6

p.R687Q

c.2060G>A

2 papers

NM_014265.6

p.V671V

c.2013G>C

1 paper

NM_014265.6

p.V671A

c.2012T>C

1 paper

NM_014265.6

p.R700_T707del0

c.2100_2120del21

1 paper

NM_014265.6

p.L702P

c.2105T>C

1 paper

NM_014265.6

p.T704T

c.2112C>T

1 paper

NM_014265.6

p.M718I

c.2154G>A

1 paper

NM_014265.6

p.E726_M727Splc

c.2179-1G>A