Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.C52S

EPOR

240 papers

RefSeq Summary

This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different int...

Pfam Domains

EpoR_lig-bindaa 37–140UCSCErythropoietin receptor, ligand binding
fn3aa 146–241UCSCFibronectin type III domain

Gene Aliases

HGNC Name

erythropoietin receptor

HGNC Alias Symbol

EPO-R

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000121.4
p.C52S
c.154T>A
Surrounding Variants
1 paper
NM_000121.4
p.C52G
c.154T>G
1 paper
NM_000121.4
p.C52F
c.155G>T
1 paper
NM_000121.4
p.C52S
c.155G>C
1 paper
NM_000121.4
p.L51V
c.151C>G
1 paper
NM_000121.4
p.L51M
c.151C>A
1 paper
NM_000121.4
p.T54N
c.161C>A
1 paper
NM_000121.4
p.E55*
c.163G>T
1 paper
NM_000121.4
p.E55Q
c.163G>C
1 paper
NM_000121.4
p.G46delFs
c.138delC
1 paper
NM_000121.4
p.G46fs
c.136_137fs
5 papers
NM_000121.4
p.G46E
c.137G>A
1 paper
NM_000121.4
p.G46R
c.136G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."