Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.P377S

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
2 papers
NM_000121.4
p.P377S
c.1129C>T
Surrounding Variants
1 paper
NM_000121.4
p.L376R
c.1127T>G
1 paper
NM_000121.4
p.L376Q
c.1127T>A
3 papers
NM_000121.4
p.P380A
c.1138C>G
2 papers
NM_000121.4
p.P380L
c.1139C>T
1 paper
NM_000121.4
p.P381S
c.1141C>T
4 papers
NM_000121.4
p.P381fs
c.1141_1142fs
1 paper
NM_000121.4
p.P381fs
c.1141_1142fs
1 paper
NM_000121.4
p.D372G
c.1115A>G
3 papers
NM_000121.4
p.P381delFs
c.1142_1143delGG
1 paper
NM_000121.4
p.D384D
c.1152C>T
1 paper
NM_000121.4
p.Y368C
c.1103A>G
1 paper
NM_000121.4
p.Y368insFs
c.1102_1103insC
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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."