Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.A46T

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
6 papers
NM_000799.4
p.A46T
c.136G>A
Surrounding Variants
1 paper
NM_000799.4
p.K47*
c.139A>T
1 paper
NM_000799.4
p.L43F
c.127C>T
1 paper
NM_000799.4
p.Y42F
c.125A>T
1 paper
NM_000799.4
p.E50*
c.148G>T
1 paper
NM_000799.4
p.Y42H
c.124T>C
1 paper
NM_000799.4
p.E50A
c.149A>C
1 paper
NM_000799.4
p.Y42delFs
c.124_125delTA
1 paper
NM_000799.4
p.R41K
c.122G>A
3 papers
NM_000799.4
p.E40K
c.118G>A
1 paper
NM_000799.4
p.T53_T54insT
c.157_161ins3
1 paper
NM_000799.4
p.L39M
c.115C>A
1 paper
NM_000799.4
p.T53M
c.158C>T
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