Varaico: Literature-Extracted Genetic Variants

Gene:ADRA2C
Variant:p.G314V

ADRA2C

110 papers

RefSeq Summary

Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role i...

Pfam Domains

7tm_1aa 68–437UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

adrenoceptor alpha 2C

HGNC Previous Symbols

ADRA2L2; ADRA2RL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000683.4
p.G314V
c.941G>T
Surrounding Variants
1 paper
NM_000683.4
p.G314S
c.940G>A
1 paper
NM_000683.4
p.G313R
c.937G>A
1 paper
NM_000683.4
p.G313R
c.937G>C
1 paper
NM_000683.4
p.A309T
c.925G>A
1 paper
NM_000683.4
p.Q321_P325del5
c.961_974del15
4 papers
NM_000683.4
p.G324_A328del0
c.971_982del12
1 paper
NM_000683.4
p.G322A
c.965G>C
1 paper
NM_000683.4
p.A327del1
c.979_980delGCG
2 papers
NM_000683.4
p.P339S
c.1015C>T
1 paper
NM_000683.4
p.P339L
c.1016C>T
1 paper
NM_000683.4
p.S289I
c.866G>T
1 paper
NM_000683.4
p.E287D
c.861G>C
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