Varaico: Literature-Extracted Genetic Variants

Gene:CLINT1
Variant:p.L64insFs

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.L64insFs
c.190_191insT
Surrounding Variants
1 paper
NM_014666.4
p.Q56_P58delFs
c.167_173del7
1 paper
NM_014666.4
p.P58delFs
c.173delG
1 paper
NM_014666.4
p.Y54D
c.160T>G
1 paper
NM_014666.4
p.V79V
c.237T>G
1 paper
NM_014666.4
p.E46G
c.137A>G
1 paper
NM_014666.4
p.E30E
c.90G>A
1 paper
NM_014666.4
p.K27M
c.80A>T
1 paper
NM_014666.4
p.E23*
c.67G>T
1 paper
NM_014666.4
p.S22S
c.66A>G
1 paper
NM_014666.4
p.Y88H
c.262T>C
1 paper
NM_014666.4
p.I90L
c.268A>T
1 paper
NM_014666.4
p.I90L
c.268A>C
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."