Varaico: Literature-Extracted Genetic Variants

Gene:CLINT1
Variant:p.R96S

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.R96S
c.286C>A
Surrounding Variants
1 paper
NM_014666.4
p.S94*
c.281C>G
1 paper
NM_014666.4
p.S94*
c.281C>A
1 paper
NM_014666.4
p.I90L
c.268A>T
1 paper
NM_014666.4
p.I90L
c.268A>C
1 paper
NM_014666.4
p.Y88H
c.262T>C
1 paper
NM_014666.4
p.E112E
c.336A>G
2 papers
NM_014666.4
p.H120D
c.358C>G
1 paper
NM_014666.4
p.Q124*
c.370C>T
1 paper
NM_014666.4
p.G125S
c.373G>A
1 paper
NM_014666.4
p.Q130*
c.388C>T
1 paper
NM_014666.4
p.K131*
c.391A>T
1 paper
NM_014666.4
p.D141N
c.421G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."