Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.A344P

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.A344P
c.1030G>C
Surrounding Variants
1 paper
NM_000121.4
p.A344G
c.1031C>G
2 papers
NM_000121.4
p.Q343P
c.1028A>C
1 paper
NM_000121.4
p.M342T
c.1025T>C
1 paper
NM_000121.4
p.E346*
c.1036G>T
2 papers
NM_000121.4
p.T341M
c.1022C>T
1 paper
NM_000121.4
p.P347P
c.1041G>A
2 papers
NM_000121.4
p.C338Y
c.1013G>A
1 paper
NM_000121.4
p.D351Y
c.1051G>T
1 paper
NM_000121.4
p.D351V
c.1052A>T
2 papers
NM_000121.4
p.E336*
c.1006G>T
1 paper
NM_000121.4
p.E336K
c.1006G>A
1 paper
NM_000121.4
p.S335Fs
c.1003delinsGAFs
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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."