Varaico: Literature-Extracted Genetic Variants

Gene:EREG
Variant:p.E95K

EREG

156 papers

RefSeq Summary

This gene encodes a secreted peptide hormone and member of the epidermal growth factor (EGF) family of proteins. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and the ...

Pfam Domains

Epiregulin_Caa 114–161UCSCEpiregulin C-terminal domain

Gene Aliases

HGNC Name

epiregulin

HGNC Alias Symbol

ER

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001432.3
p.E95K
c.283G>A
Surrounding Variants
1 paper
NM_001432.3
p.E95A
c.284A>C
1 paper
NM_001432.3
p.Y98F
c.293A>T
1 paper
NM_001432.3
p.R102*
c.304C>T
1 paper
NM_001432.3
p.R102Q
c.305G>A
1 paper
NM_001432.3
p.R102L
c.305G>T
1 paper
NM_001432.3
p.E104A
c.311A>C
2 papers
NM_001432.3
p.H111N
c.331C>A
1 paper
NM_001432.3
p.Y118N
c.352T>A
1 paper
NM_001432.3
p.Y118F
c.353A>T
1 paper
NM_001432.3
p.L125I
c.373C>A
1 paper
NM_001432.3
p.L125H
c.374T>A
1 paper
NM_001432.3
p.L125P
c.374T>C
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