Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.G471R

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.G471R
c.1411G>A
Surrounding Variants
1 paper
NM_000121.4
p.G471R
c.1411G>C
1 paper
NM_000121.4
p.G471E
c.1412G>A
1 paper
NM_000121.4
p.G471_D472insFs
c.1413_1414insG
1 paper
NM_000121.4
p.S473F
c.1418C>T
1 paper
NM_000121.4
p.Y468C
c.1403A>G
1 paper
NM_000121.4
p.Q474R
c.1421A>G
1 paper
NM_000121.4
p.D467A
c.1400A>C
2 papers
NM_000121.4
p.G475V
c.1424G>T
1 paper
NM_000121.4
p.S465A
c.1393T>G
1 paper
NM_000121.4
p.I464T
c.1391T>C
2 papers
NM_000121.4
p.Q474_Q477del0
c.1422_1430del9
1 paper
NM_000121.4
p.I464F
c.1390A>T
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