Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.P499S

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.P499S
c.1495C>T
Surrounding Variants
1 paper
NM_000121.4
p.P499T
c.1495C>A
1 paper
NM_000121.4
p.P502R
c.1505C>G
1 paper
NM_000121.4
p.Y504C
c.1511A>G
1 paper
NM_000121.4
p.N491K
c.1473C>G
1 paper
NM_000121.4
p.N491K
c.1473C>A
2 papers
NM_000121.4
p.E490D
c.1470G>T
2 papers
NM_000121.4
p.E490D
c.1470G>C
1 paper
NM_000121.4
p.Y489C
c.1466A>G
1 paper
NM_000121.4
p.Y489N
c.1465T>A
12 papers
NM_000121.4
p.P488S
c.1462C>T
14 papers
NM_000121.4
p.N487S
c.1460A>G
1 paper
NM_000121.4
p.P484H
c.1451C>A
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