Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.D123N

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.D123N
c.367G>A
Surrounding Variants
1 paper
NM_000799.4
p.D123H
c.367G>C
1 paper
NM_000799.4
p.K124_A125del2
c.370_374del6
1 paper
NM_000799.4
p.A125T
c.373G>A
1 paper
NM_000799.4
p.A125V
c.374C>T
1 paper
NM_000799.4
p.L120L
c.358C>T
1 paper
NM_000799.4
p.V126_S127ins0
c.377_379dupTCA
1 paper
NM_000799.4
p.S127_L129insFs
c.379_386dup8
1 paper
NM_000799.4
p.S127N
c.380G>A
2 papers
NM_000799.4
p.L129P
c.386T>C
1 paper
NM_000799.4
p.R130G
c.388C>G
2 papers
NM_000799.4
p.P114L
c.341C>T
1 paper
NM_000799.4
p.P114S
c.340C>T
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