Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.S407*

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
4 papers
NM_000121.4
p.S407*
c.1220C>G
Surrounding Variants
4 papers
NM_000121.4
p.S407*
c.1220C>A
1 paper
NM_000121.4
p.C406*
c.1218C>A
1 paper
NM_000121.4
p.S408C
c.1223C>G
2 papers
NM_000121.4
p.A411T
c.1231G>A
3 papers
NM_000121.4
p.S412fs
c.1234_1235fs
1 paper
NM_000121.4
p.E402D
c.1206A>T
1 paper
NM_000121.4
p.E402D
c.1206A>C
5 papers
NM_000121.4
p.S412*
c.1235C>A
3 papers
NM_000121.4
p.S412delFs
c.1234delA
1 paper
NM_000121.4
p.S412fs
c.1234_1235fs
2 papers
NM_000121.4
p.S401*
c.1202C>G
1 paper
NM_000121.4
p.S401*
c.1202C>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."