Varaico: Literature-Extracted Genetic Variants

GNAL

118 papers

RefSeq Summary

This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is ...

Pfam Domains

G-alphaaa 22–370UCSCG-protein alpha subunit

Gene Aliases

HGNC Name

G protein subunit alpha L

HGNC Previous Name

guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001142339.3

p.L166_E167insA

c.496_500ins3

Surrounding Variants

2 papers

NM_182978.4

p.R245*

c.733A>T

1 paper

NM_182978.4

p.R245I

c.734G>T

1 paper

NM_182978.4

p.D247N

c.739G>A

3 papers

NM_001142339.3

p.V172I

c.514G>A

NM_182978.4

p.V249I

c.745G>A

2 papers

NM_182978.4

p.S250G

c.748A>G

1 paper

NM_182978.4

p.P256L

c.767C>T

1 paper

NM_182978.4

p.L262F

c.784C>T

1 paper

NM_182978.4

p.S269C

c.806C>G

1 paper

NM_182978.4

p.E273V

c.818A>T

4 papers

NM_001142339.3

p.T197insFs

c.591dupA

2 papers

NM_001142339.3

p.R198insFs

c.592_593insA

2 papers

NM_001142339.3

p.R198fs

c.592_593fs