Varaico: Literature-Extracted Genetic Variants

Gene:EPN1
Variant:p.A393Splc

EPN1

45 papers

RefSeq Summary

This gene encodes a member of the epsin protein family. The encoded protein binds clathrin and is involved in the endocytosis of clathrin-coated vesicles. Loss of function of this gene is associated w...

Pfam Domains

ENTHaa 17–140UCSCENTH domain
ENTHaa 17–140UCSCENTH domain

Gene Aliases

HGNC Name

epsin 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001130072.2
p.A393Splc
c.1178-1G>C
Surrounding Variants
1 paper
NM_001130072.2
p.T399M
c.1196C>T
2 papers
NM_001130072.2
p.R411P
c.1232G>C
1 paper
NM_001130072.2
p.P346L
c.1037C>T
1 paper
NM_001130072.2
p.T314M
c.941C>T
1 paper
NM_001130072.2
p.S293L
c.878C>T
1 paper
NM_001130072.2
p.L427insFs
c.1279dupC
1 paper
NM_001130072.2
p.P457H
c.1370C>A
1 paper
NM_001130072.2
p.P556L
c.1667C>T
1 paper
NM_001130072.2
p.D235A
c.704A>C
1 paper
NM_001130072.2
p.D210fs
c.628_629fs
1 paper
NM_001130072.2
p.D210delFs
c.628delG
2 papers
NM_001130072.2
p.P203L
c.608C>T
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