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

1–12 of 212 variants

5 papers

NM_001142339.3

p.E155K

c.463G>A

4 papers

NM_182978.4

p.P40ins2

c.118_119ins6

4 papers

NM_001142339.3

p.V137M

c.409G>A

4 papers

NM_001142339.3

p.T197insFs

c.591dupA

4 papers

NM_182978.4

p.R329W

c.985A>T

3 papers

NM_182978.4

p.P36L

c.107C>T

3 papers

NM_182978.4

p.K113*

c.337A>T

3 papers

NM_001142339.3

p.M1I

c.3G>A

3 papers

NM_001142339.3

p.R21*

c.61C>T

3 papers

NM_182978.4

p.Q154_K155delFs

c.462_463delGA

3 papers

NM_182978.4

p.K155fs

c.463_464fs

3 papers

NM_001142339.3

p.S95fs

c.283_284fs