Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.R177Q

EPO

427 papers

RefSeq Summary

This gene encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The encoded protein is mainly synthesized in the kidney, secreted into the blood plasma, and binds to the er...

Pfam Domains

EPO_TPOaa 31–191UCSCErythropoietin/thrombopoietin

Gene Aliases

HGNC Name

erythropoietin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_000799.4
p.R177Q
c.530G>A
Surrounding Variants
3 papers
NM_000799.4
p.R177W
c.529C>T
1 paper
NM_000799.4
p.R177_G185del0
c.529_555del27
1 paper
NM_000799.4
p.G178*
c.532G>T
1 paper
NM_000799.4
p.G178A
c.533G>C
1 paper
NM_000799.4
p.F175F
c.525C>T
1 paper
NM_000799.4
p.N174K
c.522T>A
1 paper
NM_000799.4
p.N174K
c.522T>G
1 paper
NM_000799.4
p.K181E
c.541A>G
1 paper
NM_000799.4
p.Y172Y
c.516C>T
1 paper
NM_000799.4
p.T184A
c.550A>G
2 papers
NM_000799.4
p.T184I
c.551C>T
2 papers
NM_000799.4
p.R170Q
c.509G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."