Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.I146V

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.I146V
c.436A>G
Surrounding Variants
2 papers
NM_000799.4
p.S147C
c.440C>G
1 paper
NM_000799.4
p.E144Q
c.430G>C
1 paper
NM_000799.4
p.P148R
c.443C>G
1 paper
NM_000799.4
p.A154T
c.460G>A
1 paper
NM_000799.4
p.A155V
c.464C>T
1 paper
NM_000799.4
p.R158*
c.472C>T
1 paper
NM_000799.4
p.A162D
c.485C>A
1 paper
NM_000799.4
p.F165L
c.493T>C
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
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