Varaico: Literature-Extracted Genetic Variants

Gene:CLINT1
Variant:p.I285T

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.I285T
c.854T>C
Surrounding Variants
1 paper
NM_014666.4
p.A290S
c.868G>T
1 paper
NM_014666.4
p.R277H
c.830G>A
1 paper
NM_014666.4
p.T272K
c.815C>A
1 paper
NM_014666.4
p.E269*
c.805G>T
1 paper
NM_014666.4
p.A267D
c.800C>A
1 paper
NM_014666.4
p.A267T
c.799G>A
2 papers
NM_014666.4
p.H261Y
c.781C>T
1 paper
NM_014666.4
p.V313I
c.937G>A
1 paper
NM_014666.4
p.P246L
c.737C>T
1 paper
NM_014666.4
p.A240V
c.719C>T
1 paper
NM_014666.4
p.D233H
c.697G>C
1 paper
NM_014666.4
p.V327F
c.979G>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."