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.Y639C

c.1916A>G

Surrounding Variants

1 paper

NM_001464.5

p.C644*

c.1932C>A

1 paper

NM_001464.5

p.C633F

c.1898G>T

1 paper

NM_001464.5

p.Q647E

c.1939C>G

1 paper

NM_001464.5

p.K631T

c.1892A>C

2 papers

NM_001464.5

p.K620R

c.1859A>G

1 paper

NM_001464.5

p.T618I

c.1853C>T

1 paper

NM_001464.5

p.C606Y

c.1817G>A

1 paper

NM_001464.5

p.R602R

c.1806G>A

1 paper

NM_001464.5

p.R674L

c.2021G>T

1 paper

NM_001464.5

p.K683T

c.2048A>C

1 paper

NM_001464.5

p.F690insFs

c.2069dupT

1 paper

NM_001464.5

p.F692fs

c.2074_2075fs