Varaico: Literature-Extracted Genetic Variants

Gene:EPN2
Variant:p.R139Q

EPN2

39 papers

RefSeq Summary

This gene encodes a protein which interacts with clathrin and adaptor-related protein complex 2, alpha 1 subunit. The protein is found in a brain-derived clathrin-coated vesicle fraction and localizes...

Pfam Domains

ENTHaa 17–140UCSCENTH domain

Gene Aliases

HGNC Name

epsin 2

HGNC Alias Symbols

KIAA1065; EHB21

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014964.5
p.R139Q
c.416G>A
Surrounding Variants
1 paper
NM_014964.5
p.A147D
c.440C>A
1 paper
NM_014964.5
p.T150N
c.449C>A
1 paper
NM_014964.5
p.V123L
c.367G>C
1 paper
NM_014964.5
p.R97W
c.289C>T
1 paper
NM_014964.5
p.G190R
c.568G>A
2 papers
NM_014964.5
p.G190R
c.568G>C
1 paper
NM_014964.5
p.G198V
c.593G>T
1 paper
NM_014964.5
p.L80M
c.238C>A
1 paper
NM_014964.5
p.S199L
c.596C>T
1 paper
NM_014964.5
p.N30S
c.89A>G
1 paper
NM_014964.5
p.R25Q
c.74G>A
1 paper
NM_014964.5
p.T3T
c.9T>C
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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."