Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.L455P

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.L455P
c.1364T>C
Surrounding Variants
2 papers
NM_000121.4
p.Y454*
c.1362C>G
3 papers
NM_000121.4
p.Y454*
c.1362C>A
1 paper
NM_000121.4
p.K453T
c.1358A>C
1 paper
NM_000121.4
p.V458_V459insFs
c.1374_1375ins13
1 paper
NM_000121.4
p.P449P
c.1347A>C
1 paper
NM_000121.4
p.P449delFs
c.1346delG
1 paper
NM_000121.4
p.D461G
c.1382A>G
1 paper
NM_000121.4
p.P449fs
c.1345_1346fs
2 papers
NM_000121.4
p.S462A
c.1384T>G
1 paper
NM_000121.4
p.T448S
c.1343C>G
1 paper
NM_000121.4
p.T448S
c.1342A>T
1 paper
NM_000121.4
p.I464F
c.1390A>T
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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."