Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.P416A

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.P416A
c.1246C>G
Surrounding Variants
3 papers
NM_000121.4
p.E417*
c.1249G>T
1 paper
NM_000121.4
p.E417fs
c.1249_1250fs
3 papers
NM_000121.4
p.S415fs
c.1243_1244fs
1 paper
NM_000121.4
p.E417A
c.1250A>C
1 paper
NM_000121.4
p.E417D
c.1251G>T
1 paper
NM_000121.4
p.E417Fs
c.1250_1251delinsCFs
1 paper
NM_000121.4
p.G418*
c.1252G>T
3 papers
NM_000121.4
p.G418fs
c.1252_1253fs
2 papers
NM_000121.4
p.G418A
c.1253G>C
1 paper
NM_000121.4
p.S412fs
c.1234_1235fs
3 papers
NM_000121.4
p.G418_A419delFs
c.1252_1255del4
5 papers
NM_000121.4
p.S412*
c.1235C>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."