Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.R193delFs

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
4 papers
NM_000799.4
p.R193delFs
c.577delA
Surrounding Variants
1 paper
NM_000799.4
p.R193insFs
c.577dupA
1 paper
NM_000799.4
p.R193fs
c.577_578fs
1 paper
NM_000799.4
p.D192A
c.575A>C
1 paper
NM_000799.4
p.G191V
c.572G>T
1 paper
NM_000799.4
p.T190I
c.569C>T
1 paper
NM_000799.4
p.G185E
c.554G>A
2 papers
NM_000799.4
p.G185R
c.553G>A
1 paper
NM_000799.4
p.G185R
c.553G>C
2 papers
NM_000799.4
p.T184I
c.551C>T
1 paper
NM_000799.4
p.T184A
c.550A>G
1 paper
NM_000799.4
p.K181E
c.541A>G
1 paper
NM_000799.4
p.G178A
c.533G>C
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