Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.P488S

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
12 papers
NM_000121.4
p.P488S
c.1462C>T
Surrounding Variants
14 papers
NM_000121.4
p.N487S
c.1460A>G
1 paper
NM_000121.4
p.Y489N
c.1465T>A
1 paper
NM_000121.4
p.Y489C
c.1466A>G
2 papers
NM_000121.4
p.E490D
c.1470G>T
2 papers
NM_000121.4
p.E490D
c.1470G>C
1 paper
NM_000121.4
p.N491K
c.1473C>G
1 paper
NM_000121.4
p.N491K
c.1473C>A
1 paper
NM_000121.4
p.P484H
c.1451C>A
2 papers
NM_000121.4
p.G479fs
c.1435_1436fs
2 papers
NM_000121.4
p.Q474_Q477del0
c.1422_1430del9
1 paper
NM_000121.4
p.P499S
c.1495C>T
1 paper
NM_000121.4
p.P499T
c.1495C>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."