Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.S423G

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.S423G
c.1267A>G
Surrounding Variants
1 paper
NM_000121.4
p.A422A
c.1266C>G
1 paper
NM_000121.4
p.A421fs
c.1261_1262fs
4 papers
NM_000121.4
p.E425*
c.1273G>T
1 paper
NM_000121.4
p.E425K
c.1273G>A
2 papers
NM_000121.4
p.F424delFs
c.1271_1272delAA
1 paper
NM_000121.4
p.E425fs
c.1273_1274fs
3 papers
NM_000121.4
p.P414_Y426delFs
c.1242_1276del35
7 papers
NM_000121.4
p.Y426*
c.1278C>G
4 papers
NM_000121.4
p.Y426*
c.1278C>A
3 papers
NM_000121.4
p.G418_A419delFs
c.1252_1255del4
1 paper
NM_000121.4
p.T427fs
c.1279_1280fs
2 papers
NM_000121.4
p.G418A
c.1253G>C
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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."