Varaico: Literature-Extracted Genetic Variants

Gene:ADRA2C
Variant:p.G343delFs

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.G343delFs
c.1029delC
Surrounding Variants
1 paper
NM_000683.4
p.R344fs
c.1030_1031fs
1 paper
NM_000683.4
p.R347C
c.1039C>T
1 paper
NM_000683.4
p.P339L
c.1016C>T
1 paper
NM_000683.4
p.R347L
c.1040G>T
2 papers
NM_000683.4
p.P339S
c.1015C>T
1 paper
NM_000683.4
p.R359G
c.1075C>G
1 paper
NM_000683.4
p.A327del1
c.979_980delGCG
1 paper
NM_000683.4
p.R361S
c.1081C>A
1 paper
NM_000683.4
p.R362G
c.1084C>G
1 paper
NM_000683.4
p.G322A
c.965G>C
1 paper
NM_000683.4
p.S365G
c.1093A>G
4 papers
NM_000683.4
p.G324_A328del0
c.971_982del12
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