Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.I178N

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.I178N
c.533T>A
Surrounding Variants
1 paper
NM_000121.4
p.R179C
c.535C>T
1 paper
NM_000121.4
p.H177L
c.530A>T
1 paper
NM_000121.4
p.E181K
c.541G>A
1 paper
NM_000121.4
p.E181G
c.542A>G
1 paper
NM_000121.4
p.E181D
c.543G>T
1 paper
NM_000121.4
p.E181D
c.543G>C
1 paper
NM_000121.4
p.V182M
c.544G>A
1 paper
NM_000121.4
p.V184L
c.550G>C
1 paper
NM_000121.4
p.P168L
c.503C>T
1 paper
NM_000121.4
p.R165L
c.494G>T
1 paper
NM_000121.4
p.V193I
c.577G>A
1 paper
NM_000121.4
p.V163A
c.488T>C
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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."