Varaico: Literature-Extracted Genetic Variants

Gene:EREG
Variant:p.F24L

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.F24L
c.70T>C
Surrounding Variants
1 paper
NM_001432.3
p.H25R
c.74A>G
2 papers
NM_001432.3
p.H25Q
c.75T>A
1 paper
NM_001432.3
p.H25Q
c.75T>G
1 paper
NM_001432.3
p.L31L
c.93C>A
1 paper
NM_001432.3
p.T34N
c.101C>A
1 paper
NM_001432.3
p.S38P
c.112T>C
1 paper
NM_001432.3
p.C39S
c.116G>C
2 papers
NM_001432.3
p.G42A
c.125G>C
1 paper
NM_001432.3
p.E43A
c.128A>C
1 paper
NM_001432.3
p.S44C
c.131C>G
1 paper
NM_001432.3
p.S44S
c.132C>A
1 paper
NM_001432.3
p.D46D
c.138T>C
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