Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.R137Q

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
1 paper
NM_000799.4
p.R137Q
c.410G>A
Surrounding Variants
1 paper
NM_000799.4
p.L139_G140insFs
c.415_418dup4
2 papers
NM_000799.4
p.L135L
c.405G>C
1 paper
NM_000799.4
p.L139_G140insFs
c.417_418insG
1 paper
NM_000799.4
p.G140R
c.418G>A
1 paper
NM_000799.4
p.G140R
c.418G>C
1 paper
NM_000799.4
p.G140*
c.418G>T
1 paper
NM_000799.4
p.Q142del1
c.424_426delCAG
1 paper
NM_000799.4
p.L132P
c.395T>C
1 paper
NM_000799.4
p.R130G
c.388C>G
2 papers
NM_000799.4
p.L129P
c.386T>C
1 paper
NM_000799.4
p.S127N
c.380G>A
1 paper
NM_000799.4
p.S127_L129insFs
c.379_386dup8
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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."