Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.D35delFs

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.D35delFs
c.104delA
Surrounding Variants
1 paper
NM_000799.4
p.S36N
c.107G>A
1 paper
NM_000799.4
p.I33S
c.98T>G
2 papers
NM_000799.4
p.R37*
c.109C>T
1 paper
NM_000799.4
p.L32L
c.96C>A
1 paper
NM_000799.4
p.R31P
c.92G>C
2 papers
NM_000799.4
p.R31S
c.91C>A
1 paper
NM_000799.4
p.L39M
c.115C>A
1 paper
NM_000799.4
p.P30S
c.88C>T
3 papers
NM_000799.4
p.E40K
c.118G>A
1 paper
NM_000799.4
p.P29Q
c.86C>A
1 paper
NM_000799.4
p.R41K
c.122G>A
1 paper
NM_000799.4
p.Y42delFs
c.124_125delTA
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