Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.P114S

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.P114S
c.340C>T
Surrounding Variants
2 papers
NM_000799.4
p.P114L
c.341C>T
1 paper
NM_000799.4
p.Q113L
c.338A>T
1 paper
NM_000799.4
p.S112F
c.335C>T
1 paper
NM_000799.4
p.S111A
c.331T>G
1 paper
NM_000799.4
p.N110S
c.329A>G
1 paper
NM_000799.4
p.V109I
c.325G>A
1 paper
NM_000799.4
p.V109L
c.325G>C
1 paper
NM_000799.4
p.L120L
c.358C>T
1 paper
NM_000799.4
p.A106V
c.317C>T
1 paper
NM_000799.4
p.A106S
c.316G>T
1 paper
NM_000799.4
p.D123N
c.367G>A
1 paper
NM_000799.4
p.D123H
c.367G>C
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