Varaico: Literature-Extracted Genetic Variants

Gene:GNAL
Variant:p.R347W

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_182978.4
p.R347W
c.1039C>T
Surrounding Variants
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
1 paper
NM_182978.4
p.I352I
c.1056C>T
1 paper
NM_182978.4
p.F354S
c.1061T>C
2 papers
NM_001142339.3
p.M283_L284insT
c.847_851ins3
1 paper
NM_182978.4
p.V365I
c.1093G>A
3 papers
NM_001142339.3
p.S293*
c.878C>A
3 papers
NM_001142339.3
p.S293*
c.878C>G
1 paper
NM_182978.4
p.I372S
c.1115T>G
1 paper
NM_182978.4
p.D374E
c.1122C>A
1 paper
NM_182978.4
p.D374E
c.1122C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."