Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1LI2
Variant:p.K233E

DYNC1LI2

34 papers

RefSeq Summary

Cytoplasmic dynein is a microtubule-associated motor protein (Hughes et al., 1995 [PubMed 7738094]). See DYNC1H1 (MIM 600112) for general information about dyneins.[supplied by OMIM, Mar 2008].

Pfam Domains

DLICaa 30–491UCSCDynein light intermediate chain (DLIC)

Gene Aliases

HGNC Name

dynein cytoplasmic 1 light intermediate chain 2

HGNC Previous Symbol

DNCLI2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006141.3
p.K233E
c.697A>G
Surrounding Variants
1 paper
NM_006141.3
p.D216N
c.646G>A
1 paper
NM_006141.3
p.G199R
c.595G>C
1 paper
NM_006141.3
p.M185I
c.555G>T
1 paper
NM_006141.3
p.M185I
c.555G>C
1 paper
NM_006141.3
p.M185I
c.555G>A
1 paper
NM_006141.3
p.A236V
c.707C>T
1 paper
NM_006141.3
p.D245A
c.734A>C
1 paper
NM_006141.3
p.L251L
c.753G>A
1 paper
NM_006141.3
p.E276Q
c.826G>C
1 paper
NM_006141.3
p.G293S
c.877G>A
1 paper
NM_006141.3
p.F296L
c.886T>C
1 paper
NM_006141.3
p.F296L
c.888C>G
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."