Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.T324M

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.T324M
c.971C>T
Surrounding Variants
1 paper
NM_000121.4
p.E325D
c.975G>T
1 paper
NM_000121.4
p.E325D
c.975G>C
1 paper
NM_000121.4
p.P322R
c.965C>G
2 papers
NM_000121.4
p.P327fs
c.979_980fs
1 paper
NM_000121.4
p.E332Q
c.994G>C
1 paper
NM_000121.4
p.V333F
c.997G>T
1 paper
NM_000121.4
p.C314R
c.940T>C
1 paper
NM_000121.4
p.S335Fs
c.1003delinsGAFs
2 papers
NM_000121.4
p.E336*
c.1006G>T
1 paper
NM_000121.4
p.E336K
c.1006G>A
2 papers
NM_000121.4
p.D312N
c.934G>A
2 papers
NM_000121.4
p.C338Y
c.1013G>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."