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.F6L

c.18T>G

Surrounding Variants

1 paper

NM_001464.5

p.F6L

c.18T>A

1 paper

NM_001464.5

p.F6L

c.16T>C

1 paper

NM_001464.5

p.G10W

c.28G>T

1 paper

NM_001464.5

p.R3C

c.7C>T

1 paper

NM_001464.5

p.G12C

c.34G>T

1 paper

NM_001464.5

p.G12D

c.35G>A

2 papers

NM_001464.5

p.R15W

c.43C>T

1 paper

NM_001464.5

p.R15P

c.44G>C

1 paper

NM_001464.5

p.D21V

c.62A>T

1 paper

NM_001464.5

p.T28T

c.84A>T

1 paper

NM_001464.5

p.T28T

c.84A>G

1 paper

NM_001464.5

p.T28T

c.84A>C