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.V362V

c.1086G>A

Surrounding Variants

1 paper

NM_014265.6

p.D350N

c.1048G>A

3 papers

NM_014265.6

p.E340K

c.1018G>A

1 paper

NM_014265.6

p.R332I

c.995G>T

2 papers

NM_014265.6

p.D328N

c.982G>A

1 paper

NM_014265.6

p.R380S

c.1138C>A

1 paper

NM_014265.6

p.R380C

c.1138C>T

1 paper

NM_014265.6

p.R380H

c.1139G>A

1 paper

NM_014265.6

p.L381F

c.1141C>T

1 paper

NM_014265.6

p.F386delFs

c.1157delT

1 paper

NM_014265.6

p.F386fs

c.1156_1157fs

1 paper

NM_014265.6

p.V415V

c.1245G>A

1 paper

NM_014265.6

p.E416*

c.1246G>T