Varaico: Literature-Extracted Genetic Variants

Gene:CLINT1
Variant:p.Y159S

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.Y159S
c.476A>C
Surrounding Variants
1 paper
NM_014666.4
p.G169*
c.505G>T
1 paper
NM_014666.4
p.G169E
c.506G>A
1 paper
NM_014666.4
p.E148A
c.443A>C
1 paper
NM_014666.4
p.E148Q
c.442G>C
1 paper
NM_014666.4
p.V167_S173del0
c.500_517del18
2 papers
NM_014666.4
p.R144S
c.432G>T
2 papers
NM_014666.4
p.R144S
c.432G>C
1 paper
NM_014666.4
p.D141N
c.421G>A
1 paper
NM_014666.4
p.K131*
c.391A>T
1 paper
NM_014666.4
p.Q130*
c.388C>T
1 paper
NM_014666.4
p.G125S
c.373G>A
1 paper
NM_014666.4
p.Q124*
c.370C>T
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."