Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.Q92insFs

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.Q92insFs
c.275_276insG
Surrounding Variants
1 paper
NM_000799.4
p.Q92K
c.274C>A
1 paper
NM_000799.4
p.G93A
c.278G>C
1 paper
NM_000799.4
p.G93_L97delins
c.278_289delinsCCGCCTCCT
1 paper
NM_000799.4
p.L94R
c.281T>G
1 paper
NM_000799.4
p.E89G
c.266A>G
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.L96P
c.287T>C
1 paper
NM_000799.4
p.L97_S98del1
c.290_292delTGT
1 paper
NM_000799.4
p.S98*
c.293C>A
1 paper
NM_000799.4
p.Q86*
c.256C>T
1 paper
NM_000799.4
p.E99fs
c.295_296fs
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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."