Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1LI2

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
1–12 of 37 variants
2 papers
NM_006141.3
p.R98Q
c.293G>A
1 paper
NM_006141.3
p.P14S
c.40C>T
1 paper
NM_006141.3
p.G32S
c.94G>A
1 paper
NM_006141.3
p.E42K
c.124G>A
1 paper
NM_006141.3
p.P52R
c.155C>G
1 paper
NM_006141.3
p.G80G
c.240C>A
1 paper
NM_006141.3
p.K81I
c.242A>T
1 paper
NM_006141.3
p.R103C
c.307C>T
1 paper
NM_006141.3
p.V133I
c.397G>A
1 paper
NM_006141.3
p.V133delFs
c.397delC
1 paper
NM_006141.3
p.P167fs
c.499_500fs
1 paper
NM_006141.3
p.P167delFs
c.500delG
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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."