Varaico: Literature-Extracted Genetic Variants

Gene:ADRB1
Variant:p.V120L

ADRB1

482 papers

RefSeq Summary

The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effec...

Pfam Domains

7tm_1aa 75–377UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

adrenoceptor beta 1

HGNC Previous Symbol

ADRB1R

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000684.3
p.V120L
c.358G>T
Surrounding Variants
1 paper
NM_000684.3
p.V120L
c.358G>C
1 paper
NM_000684.3
p.V119M
c.355G>A
1 paper
NM_000684.3
p.I118V
c.352A>G
2 papers
NM_000684.3
p.A116T
c.346G>A
1 paper
NM_000684.3
p.W124G
c.370T>G
1 paper
NM_000684.3
p.F114C
c.341T>G
1 paper
NM_000684.3
p.Y126H
c.376T>C
2 papers
NM_000684.3
p.Y126*
c.378C>A
1 paper
NM_000684.3
p.Y126*
c.378C>G
1 paper
NM_000684.3
p.L109M
c.325C>A
1 paper
NM_000684.3
p.W134R
c.400T>A
1 paper
NM_000684.3
p.W134R
c.400T>C
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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."