Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.A99V

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
5 papers
NM_000121.4
p.A99V
c.296C>T
Surrounding Variants
1 paper
NM_000121.4
p.R100C
c.298C>T
1 paper
NM_000121.4
p.P97L
c.290C>T
1 paper
NM_000121.4
p.P97T
c.289C>A
1 paper
NM_000121.4
p.A96V
c.287C>T
1 paper
NM_000121.4
p.V103L
c.307G>T
1 paper
NM_000121.4
p.V103L
c.307G>C
1 paper
NM_000121.4
p.R104G
c.310C>G
1 paper
NM_000121.4
p.R104L
c.311G>T
1 paper
NM_000121.4
p.R104H
c.311G>A
1 paper
NM_000121.4
p.L93P
c.278T>C
1 paper
NM_000121.4
p.C107R
c.319T>C
1 paper
NM_000121.4
p.C107Y
c.320G>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."