Varaico: Literature-Extracted Genetic Variants

Gene:CLINT1
Variant:p.R8R

CLINT1

86 papers

RefSeq Summary

This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein...

Pfam Domains

ENTHaa 21–145UCSCENTH domain

Gene Aliases

HGNC Name

clathrin interactor 1

HGNC Alias Symbols

ENTH; KIAA0171; EPNR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014666.4
p.R8R
c.24C>T
Surrounding Variants
1 paper
NM_014666.4
p.V7L
c.19G>T
1 paper
NM_014666.4
p.V7L
c.19G>C
1 paper
NM_014666.4
p.M4V
c.10A>G
1 paper
NM_014666.4
p.L2M
c.4T>A
1 paper
NM_014666.4
p.A14Splc
c.41+4A>G
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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."