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

4 papers

NM_182978.4

p.R329W

c.985A>T

Surrounding Variants

1 paper

NM_182978.4

p.D324N

c.970G>A

7 papers

NM_001142339.3

p.R245*

c.733C>T

NM_001261443.2

p.R322*

c.964C>T

1 paper

NM_001142339.3

p.S238N

c.713G>A

1 paper

NM_001142339.3

p.V234I

c.700G>A

3 papers

NM_001142339.3

p.V228F

c.682G>T

1 paper

NM_182978.4

p.Q300L

c.899A>T

4 papers

NM_001142339.3

p.G213S

c.637G>A

NM_182978.4

p.G290S

c.868G>A

1 paper

NM_001142339.3

p.D210N

c.628G>A

1 paper

NM_182978.4

p.R347W

c.1039C>T

1 paper

NM_001142339.3

p.I272F

c.814A>T

1 paper

NM_182978.4

p.I351I

c.1053C>T

2 papers

NM_182978.4

p.F354_L355del0

c.1060_1065del6