Varaico: Literature-Extracted Genetic Variants

Gene:DYNLL1
Variant:p.K48N

DYNLL1

83 papers

RefSeq Summary

Cytoplasmic dyneins are large enzyme complexes with a molecular mass of about 1,200 kD. They contain two force-producing heads formed primarily from dynein heavy chains, and stalks linking the heads t...

Pfam Domains

Dynein_lightaa 5–88UCSCDynein light chain type 1

Gene Aliases

HGNC Name

dynein light chain LC8-type 1

HGNC Previous Symbol

DNCL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003746.3
p.K48N
c.144G>C
Surrounding Variants
1 paper
NM_003746.3
p.K48N
c.144G>T
1 paper
NM_003746.3
p.K49M
c.146A>T
1 paper
NM_003746.3
p.Y50Y
c.150C>T
1 paper
NM_003746.3
p.P52R
c.155C>G
1 paper
NM_003746.3
p.W54R
c.160T>A
1 paper
NM_003746.3
p.W54R
c.160T>C
1 paper
NM_003746.3
p.I57delFs
c.170delT
1 paper
NM_003746.3
p.F62F
c.186C>T
1 paper
NM_003746.3
p.Y65F
c.194A>T
1 paper
NM_003746.3
p.Y65Y
c.195T>C
1 paper
NM_003746.3
p.T70A
c.208A>G
1 paper
NM_003746.3
p.G79R
c.235G>C
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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."