Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1LI2
Variant:p.D480N

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.D480N
c.1438G>A
Surrounding Variants
1 paper
NM_006141.3
p.R477G
c.1429C>G
1 paper
NM_006141.3
p.N467K
c.1401T>G
1 paper
NM_006141.3
p.N467K
c.1401T>A
1 paper
NM_006141.3
p.K414M
c.1241A>T
1 paper
NM_006141.3
p.T410T
c.1230G>T
1 paper
NM_006141.3
p.P408R
c.1223C>G
1 paper
NM_006141.3
p.S402N
c.1205G>A
1 paper
NM_006141.3
p.S402C
c.1204A>T
1 paper
NM_006141.3
p.S383C
c.1148C>G
1 paper
NM_006141.3
p.E337V
c.1010A>T
1 paper
NM_006141.3
p.F296L
c.888C>G
1 paper
NM_006141.3
p.F296L
c.888C>A
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