Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.W11fs

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
1 paper
NM_000799.4
p.W11fs
c.31_32fs
Surrounding Variants
10 papers
NM_000799.4
p.W11delFs
c.32delG
1 paper
NM_000799.4
p.L10L
c.28C>T
1 paper
NM_000799.4
p.W9*
c.27G>A
1 paper
NM_000799.4
p.L12P
c.35T>C
1 paper
NM_000799.4
p.L12L
c.36T>C
1 paper
NM_000799.4
p.W9_L10insFs
c.27_28insG
1 paper
NM_000799.4
p.L14_S15insA
c.40_44ins3
1 paper
NM_000799.4
p.L14L
c.40C>T
4 papers
NM_000799.4
p.P7fs
c.19_20fs
1 paper
NM_000799.4
p.S15T
c.43T>A
8 papers
NM_000799.4
p.P7delFs
c.19delC
1 paper
NM_000799.4
p.C6S
c.17G>C
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