Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.Q434*

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.Q434*
c.1300C>T
Surrounding Variants
6 papers
NM_000121.4
p.Q434fs
c.1300_1301fs
3 papers
NM_000121.4
p.Q434insFs
c.1300dupC
1 paper
NM_000121.4
p.Q434fs
c.1300_1301fs
1 paper
NM_000121.4
p.L435delins
c.1303_1304delinsGC
2 papers
NM_000121.4
p.S433_L435insFs
c.1299_1305dup7
2 papers
NM_000121.4
p.S433_L435delFs
c.1299_1305del7
2 papers
NM_000121.4
p.L436fs
c.1306_1307fs
3 papers
NM_000121.4
p.S432fs
c.1294_1295fs
3 papers
NM_000121.4
p.P431delFs
c.1293delG
1 paper
NM_000121.4
p.L436*
c.1307T>A
1 paper
NM_000121.4
p.R437fs
c.1309_1310fs
1 paper
NM_000121.4
p.L436_R437insFs
c.1308_1309insG
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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."