Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.C60F

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.C60F
c.179G>T
Surrounding Variants
2 papers
NM_000799.4
p.E58A
c.173A>C
1 paper
NM_000799.4
p.A57T
c.169G>A
1 paper
NM_000799.4
p.A57P
c.169G>C
1 paper
NM_000799.4
p.C56Y
c.167G>A
1 paper
NM_000799.4
p.N65Y
c.193A>T
1 paper
NM_000799.4
p.N65_I66insFs
c.195_196insT
1 paper
NM_000799.4
p.I66_P69delFs
c.196_206del11
1 paper
NM_000799.4
p.T54K
c.161C>A
1 paper
NM_000799.4
p.T54M
c.161C>T
1 paper
NM_000799.4
p.I66T
c.197T>C
1 paper
NM_000799.4
p.T54A
c.160A>G
2 papers
NM_000799.4
p.T53_T54Splc
c.160-1G>A
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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."