Varaico: Literature-Extracted Genetic Variants

Gene:EPN1
Variant:p.R135L

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.R135L
c.404G>T
Surrounding Variants
2 papers
NM_001130072.2
p.E137E
c.411G>A
1 paper
NM_001130072.2
p.R124R
c.372T>C
1 paper
NM_001130072.2
p.A147V
c.440C>T
1 paper
NM_001130072.2
p.K153*
c.457A>T
1 paper
NM_001130072.2
p.A155delFs
c.464delC
1 paper
NM_001130072.2
p.S89L
c.266C>T
1 paper
NM_001130072.2
p.M81V
c.241A>G
1 paper
NM_001130072.2
p.T79A
c.235A>G
1 paper
NM_001130072.2
p.G166S
c.496G>A
1 paper
NM_001130072.2
p.Q189L
c.566A>T
1 paper
NM_001130072.2
p.A193T
c.577G>A
2 papers
NM_001130072.2
p.P203L
c.608C>T
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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."