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.F577fs

c.1729_1730fs

Surrounding Variants

2 papers

NM_001464.5

p.E576G

c.1727A>G

1 paper

NM_001464.5

p.F577_S579del0

c.1730_1735del6

1 paper

NM_001464.5

p.A574V

c.1721C>T

1 paper

NM_001464.5

p.H581P

c.1742A>C

1 paper

NM_001464.5

p.S568C

c.1702A>T

1 paper

NM_001464.5

p.D591Y

c.1771G>T

1 paper

NM_001464.5

p.D591N

c.1771G>A

1 paper

NM_001464.5

p.R559*

c.1675A>T

1 paper

NM_001464.5

p.G596G

c.1788T>C

1 paper

NM_001464.5

p.S597L

c.1790C>T

1 paper

NM_001464.5

p.P558S

c.1672C>T

1 paper

NM_001464.5

p.Q541R

c.1622A>G