Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.G84insFs

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.G84insFs
c.250_251insA
Surrounding Variants
4 papers
NM_000799.4
p.G84R
c.250G>A
4 papers
NM_000799.4
p.G84R
c.250G>C
1 paper
NM_000799.4
p.G84insFs
c.251_252insA
1 paper
NM_000799.4
p.Q85insFs
c.254_255insT
1 paper
NM_000799.4
p.Q86*
c.256C>T
2 papers
NM_000799.4
p.E89K
c.265G>A
1 paper
NM_000799.4
p.E89Q
c.265G>C
1 paper
NM_000799.4
p.E89G
c.266A>G
1 paper
NM_000799.4
p.Q92K
c.274C>A
1 paper
NM_000799.4
p.Q92insFs
c.275_276insG
1 paper
NM_000799.4
p.G93A
c.278G>C
1 paper
NM_000799.4
p.G93_L97delins
c.278_289delinsCCGCCTCCT
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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."