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.G65E

c.194G>A

Surrounding Variants

1 paper

NM_014265.6

p.N64I

c.191A>T

1 paper

NM_014265.6

p.L72_K73insFs

c.216_217insA

1 paper

NM_014265.6

p.K73fs

c.217_218fs

1 paper

NM_014265.6

p.N75fs

c.223_224fs

2 papers

NM_014265.6

p.N75fs

c.223_224fs

1 paper

NM_014265.6

p.P81L

c.242C>T

1 paper

NM_014265.6

p.S120G

c.358A>G

1 paper

NM_014265.6

p.L127L

c.381A>G

2 papers

NM_014265.6

p.H147N

c.439C>A

1 paper

NM_014265.6

p.N159S

c.476A>G

1 paper

NM_014265.6

p.K163N

c.489G>C

1 paper

NM_014265.6

p.K163N

c.489G>T