Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.V72_G73insFs

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.V72_G73insFs
c.216_217insA
Surrounding Variants
2 papers
NM_000121.4
p.G71A
c.212G>C
1 paper
NM_000121.4
p.G71R
c.211G>A
1 paper
NM_000121.4
p.A70D
c.209C>A
1 paper
NM_000121.4
p.A70_G71ins10
c.208_212ins30
2 papers
NM_000121.4
p.Y77H
c.229T>C
1 paper
NM_000121.4
p.S78N
c.233G>A
1 paper
NM_000121.4
p.S78R
c.234C>A
1 paper
NM_000121.4
p.Y81H
c.241T>C
1 paper
NM_000121.4
p.W64R
c.190T>C
1 paper
NM_000121.4
p.W64R
c.190T>A
1 paper
NM_000121.4
p.Y81F
c.242A>T
2 papers
NM_000121.4
p.Q82*
c.244C>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."