Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2LI1
Variant:p.P169_D170Splc

DYNC2LI1

59 papers

RefSeq Summary

This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transpo...

Pfam Domains

DLICaa 2–179UCSCDynein light intermediate chain (DLIC)

Gene Aliases

HGNC Name

dynein cytoplasmic 2 light intermediate chain 1

HGNC Alias Symbols

D2LIC; LIC3; CGI-60; DKFZP564A033

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016008.4
p.P169_D170Splc
c.508-4G>A
Surrounding Variants
1 paper
NM_016008.4
p.P169_D170Splc
c.508-1G>A
1 paper
NM_001348913.2
p.D171E
c.513T>A
1 paper
NM_001348913.2
p.D171E
c.513T>G
1 paper
NM_016008.4
p.P178L
c.533C>T
1 paper
NM_016008.4
p.V182V
c.546C>T
2 papers
NM_016008.4
p.I184N
c.551T>A
1 paper
NM_016008.4
p.Q192E
c.574C>G
1 paper
NM_016008.4
p.F194S
c.581T>C
4 papers
NM_001193464.2
p.R208*
c.622C>T
NM_016008.4
p.R207*
c.619C>T
1 paper
NM_016008.4
p.H211Y
c.631C>T
1 paper
NM_016008.4
p.P169_D170Splc
c.507+44T>A
2 papers
NM_016008.4
p.K140delFs
c.420delA
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."