Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.E399D

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.E399D
c.1197A>T
Surrounding Variants
1 paper
NM_000121.4
p.E399D
c.1197A>C
3 papers
NM_000121.4
p.E399*
c.1195G>T
1 paper
NM_000121.4
p.D398E
c.1194T>G
1 paper
NM_000121.4
p.D398E
c.1194T>A
1 paper
NM_000121.4
p.D398V
c.1193A>T
1 paper
NM_000121.4
p.D398G
c.1193A>G
1 paper
NM_000121.4
p.M397_D398insFs
c.1191_1192insG
2 papers
NM_000121.4
p.S401*
c.1202C>G
1 paper
NM_000121.4
p.S401*
c.1202C>A
1 paper
NM_000121.4
p.E402D
c.1206A>T
1 paper
NM_000121.4
p.E402D
c.1206A>C
1 paper
NM_000121.4
p.G387_A396delFs
c.1161_1186del26
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."