Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.F165L

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.F165L
c.493T>C
Surrounding Variants
1 paper
NM_000799.4
p.F165L
c.495C>A
1 paper
NM_000799.4
p.F165L
c.495C>G
1 paper
NM_000799.4
p.R166C
c.496C>T
1 paper
NM_000799.4
p.R166H
c.497G>A
1 paper
NM_000799.4
p.A162D
c.485C>A
2 papers
NM_000799.4
p.R170Q
c.509G>A
1 paper
NM_000799.4
p.R158*
c.472C>T
1 paper
NM_000799.4
p.Y172Y
c.516C>T
1 paper
NM_000799.4
p.A155V
c.464C>T
1 paper
NM_000799.4
p.N174K
c.522T>A
1 paper
NM_000799.4
p.N174K
c.522T>G
1 paper
NM_000799.4
p.F175F
c.525C>T
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