Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.P443delFs

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.P443delFs
c.1328delG
Surrounding Variants
1 paper
NM_000121.4
p.P443delins
c.1327_1329delinsTAA
1 paper
NM_000121.4
p.E444*
c.1330G>T
1 paper
NM_000121.4
p.L445_P446insGG
c.1333_1337ins6
1 paper
NM_000121.4
p.L445Q
c.1334T>A
18 papers
NM_000121.4
p.W439*
c.1317G>A
20 papers
NM_000121.4
p.W439*
c.1316G>A
1 paper
NM_000121.4
p.T448S
c.1342A>T
1 paper
NM_000121.4
p.T448S
c.1343C>G
5 papers
NM_000121.4
p.R437_P438delFs
c.1311_1312delGA
1 paper
NM_000121.4
p.P449fs
c.1345_1346fs
5 papers
NM_000121.4
p.P438fs
c.1312_1313fs
1 paper
NM_000121.4
p.P449P
c.1347A>C
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