Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.D430fs

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
3 papers
NM_000121.4
p.D430fs
c.1288_1289fs
Surrounding Variants
1 paper
NM_000121.4
p.L429fs
c.1285_1286fs
1 paper
NM_000121.4
p.D430V
c.1289A>T
3 papers
NM_000121.4
p.D430insFs
c.1288dupG
1 paper
NM_000121.4
p.L429R
c.1286T>G
2 papers
NM_000121.4
p.L429delFs
c.1285delG
1 paper
NM_000121.4
p.D430fs
c.1288_1289fs
1 paper
NM_000121.4
p.I428_D430insFs
c.1283_1289dup7
2 papers
NM_000121.4
p.L429fs
c.1285_1286fs
1 paper
NM_000121.4
p.E425_D430insFs
c.1275_1290dup16
1 paper
NM_000121.4
p.P431fs
c.1291_1292fs
4 papers
NM_000121.4
p.I428fs
c.1282_1283fs
3 papers
NM_000121.4
p.S432fs
c.1294_1295fs
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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."