Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.E5Splc

EPO

427 papers

RefSeq Summary

This gene encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The encoded protein is mainly synthesized in the kidney, secreted into the blood plasma, and binds to the er...

Pfam Domains

EPO_TPOaa 31–191UCSCErythropoietin/thrombopoietin

Gene Aliases

HGNC Name

erythropoietin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000799.4
p.E5Splc
c.14-6T>C
Surrounding Variants
2 papers
NM_000799.4
p.E5Splc
c.14-1G>A
1 paper
NM_000799.4
p.E5_C6insFs
c.15_16insA
1 paper
NM_000799.4
p.E5fs
c.13_14fs
1 paper
NM_000799.4
p.C6S
c.16T>A
1 paper
NM_000799.4
p.C6S
c.17G>C
8 papers
NM_000799.4
p.P7delFs
c.19delC
4 papers
NM_000799.4
p.P7fs
c.19_20fs
1 paper
NM_000799.4
p.W9_L10insFs
c.27_28insG
1 paper
NM_000799.4
p.W9*
c.27G>A
2 papers
NM_000799.4
p.E5Splc
c.14-26A>G
1 paper
NM_000799.4
p.L10L
c.28C>T
2 papers
NM_000799.4
p.E5Splc
c.14-28T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."