Varaico: Literature-Extracted Genetic Variants

Gene:CLINT1
Variant:p.N622I

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.N622I
c.1865A>T
Surrounding Variants
1 paper
NM_014666.4
p.N622S
c.1865A>G
1 paper
NM_014666.4
p.T593A
c.1777A>G
1 paper
NM_014666.4
p.L592F
c.1776G>C
1 paper
NM_014666.4
p.S575G
c.1723A>G
1 paper
NM_014666.4
p.M572I
c.1716G>T
1 paper
NM_014666.4
p.M572I
c.1716G>C
2 papers
NM_014666.4
p.M572I
c.1716G>A
1 paper
NM_014666.4
p.Q509L
c.1526A>T
1 paper
NM_014666.4
p.K497N
c.1491A>T
1 paper
NM_014666.4
p.K497N
c.1491A>C
1 paper
NM_014666.4
p.P495A
c.1483C>G
1 paper
NM_014666.4
p.T476I
c.1427C>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."