Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.M1I

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
3 papers
NM_000799.4
p.M1I
c.3G>T
Surrounding Variants
4 papers
NM_000799.4
p.M1I
c.3G>A
3 papers
NM_000799.4
p.M1I
c.3G>C
1 paper
NM_000799.4
p.G2R
c.4G>A
1 paper
NM_000799.4
p.G2R
c.4G>C
2 papers
NM_000799.4
p.G2fs
c.4_5fs
1 paper
NM_000799.4
p.M1T
c.2T>C
1 paper
NM_000799.4
p.M1R
c.2T>G
1 paper
NM_000799.4
p.M1delFs
c.3delG
1 paper
NM_000799.4
p.M1L
c.1A>C
2 papers
NM_000799.4
p.M1V
c.1A>G
1 paper
NM_000799.4
p.M1L
c.1A>T
1 paper
NM_000799.4
p.M1_G2delFs
c.2_5del4
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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."