Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.L26delFs

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.L26delFs
c.77delT
Surrounding Variants
1 paper
NM_000799.4
p.L26M
c.76C>A
1 paper
NM_000799.4
p.V25D
c.74T>A
2 papers
NM_000799.4
p.P24S
c.70C>T
1 paper
NM_000799.4
p.P29Q
c.86C>A
1 paper
NM_000799.4
p.P30S
c.88C>T
2 papers
NM_000799.4
p.R31S
c.91C>A
1 paper
NM_000799.4
p.L21V
c.61C>G
1 paper
NM_000799.4
p.R31P
c.92G>C
1 paper
NM_000799.4
p.P20A
c.58C>G
1 paper
NM_000799.4
p.L32L
c.96C>A
1 paper
NM_000799.4
p.S18_L19insFs
c.54_55insT
1 paper
NM_000799.4
p.I33S
c.98T>G
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