Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.R103Q

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
5 papers
NM_000799.4
p.R103Q
c.308G>A
Surrounding Variants
1 paper
NM_000799.4
p.G104V
c.311G>T
1 paper
NM_000799.4
p.L102Q
c.305T>A
1 paper
NM_000799.4
p.L102P
c.305T>C
1 paper
NM_000799.4
p.L102R
c.305T>G
1 paper
NM_000799.4
p.L102ins1
c.304_305insGAC
1 paper
NM_000799.4
p.V101fs
c.301_302fs
1 paper
NM_000799.4
p.A106S
c.316G>T
1 paper
NM_000799.4
p.V101delFs
c.301delG
1 paper
NM_000799.4
p.A106V
c.317C>T
1 paper
NM_000799.4
p.E99insFs
c.296_297insC
2 papers
NM_000799.4
p.E99G
c.296A>G
1 paper
NM_000799.4
p.E99fs
c.295_296fs
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