Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.E82D

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.E82D
c.246G>T
Surrounding Variants
1 paper
NM_000799.4
p.E82D
c.246G>C
1 paper
NM_000799.4
p.E82G
c.245A>G
1 paper
NM_000799.4
p.E82K
c.244G>A
1 paper
NM_000799.4
p.R80insFs
c.238_239insG
1 paper
NM_000799.4
p.R80R
c.238A>C
3 papers
NM_000799.4
p.A77D
c.230C>A
1 paper
NM_000799.4
p.Y76C
c.227A>G
1 paper
NM_000799.4
p.F75L
c.225C>A
1 paper
NM_000799.4
p.F75L
c.225C>G
1 paper
NM_000799.4
p.F75L
c.223T>C
1 paper
NM_000799.4
p.D70E
c.210C>A
6 papers
NM_000799.4
p.D70N
c.208G>A
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