Varaico: Literature-Extracted Genetic Variants

AMBN

79 papers

RefSeq Summary

This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding ...

Pfam Domains

Amelinaa 11–195UCSCAmeloblastin precursor (Amelin)

Amelinaa 193–447UCSCAmeloblastin precursor (Amelin)

Gene Aliases

HGNC Name

ameloblastin

HGNC Previous Names

ameloblastin, enamel matrix protein; ameloblastin (enamel matrix protein)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016519.6

p.G51R

c.151G>A

Surrounding Variants

1 paper

NM_016519.6

p.G51R

c.151G>C

1 paper

NM_016519.6

p.G51V

c.152G>T

3 papers

NM_016519.6

p.L50V

c.148T>G

2 papers

NM_016519.6

p.L53V

c.157C>G

3 papers

NM_016519.6

p.Q54E

c.160C>G

1 paper

NM_016519.6

p.M47T

c.140T>C

2 papers

NM_016519.6

p.N57S

c.170A>G

1 paper

NM_016519.6

p.T58T

c.174A>T

1 paper

NM_016519.6

p.Q61K

c.181C>A

1 paper

NM_016519.6

p.Q61P

c.182A>C

1 paper

NM_016519.6

p.Q61R

c.182A>G

1 paper

NM_016519.6

p.Q61L

c.182A>T