Varaico: Literature-Extracted Genetic Variants

ADAM2

80 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 14–99UCSCReprolysin family propeptide

Reprolysinaa 178–375UCSCReprolysin (M12B) family zinc metalloprotease

Disintegrinaa 393–468UCSCDisintegrin

ADAM_CRaa 473–587UCSCADAM cysteine-rich

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 2

HGNC Previous Symbol

FTNB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001464.5

p.G195R

c.583G>C

Surrounding Variants

1 paper

NM_001464.5

p.G195R

c.583G>A

1 paper

NM_001464.5

p.H193Y

c.577C>T

1 paper

NM_001464.5

p.H193N

c.577C>A

3 papers

NM_001464.5

p.L190_Y191Splc

c.571-2A>T

1 paper

NM_001464.5

p.A202T

c.604G>A

1 paper

NM_001464.5

p.Q203Q

c.609A>G

1 paper

NM_001464.5

p.L211*

c.632T>A

1 paper

NM_001464.5

p.I215L

c.643A>C

1 paper

NM_001464.5

p.F216V

c.646T>G

1 paper

NM_001464.5

p.S218L

c.653C>T

2 papers

NM_001464.5

p.T222I

c.665C>T

1 paper

NM_001464.5

p.D233G

c.698A>G