Varaico: Literature-Extracted Genetic Variants

Gene:EPGN
Variant:p.Y111H

EPGN

26 papers

RefSeq Summary

The protein encoded by this gene is a member of the epidermal growth factor family. Members of this family are ligands for the epidermal growth factor receptor and play a role in cell survival, prolif...

Pfam Domains

Epigen_Caa 101–141UCSCEpigen C-terminal domain

Gene Aliases

HGNC Name

epithelial mitogen

HGNC Alias Symbols

PRO9904; ALGV3072

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001270989.2
p.Y111H
c.331T>C
Surrounding Variants
1 paper
NM_001270989.2
p.I114T
c.341T>C
1 paper
NM_001270989.2
p.Y108delFs
c.322delT
1 paper
NM_001270989.2
p.S102S
c.306A>T
1 paper
NM_001270989.2
p.L120insFs
c.359dupT
1 paper
NM_001270989.2
p.S102insFs
c.305dupC
1 paper
NM_001270989.2
p.L100S
c.299T>C
1 paper
NM_001270989.2
p.L98S
c.293T>C
1 paper
NM_001270989.2
p.R134T
c.401G>C
1 paper
NM_001270989.2
p.C84G
c.250T>G
1 paper
NM_001270989.2
p.H76_H77delFs
c.228_229delCC
1 paper
NM_001270989.2
p.F75V
c.223T>G
1 paper
NM_001270989.2
p.E62delFs
c.186delA
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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."