Varaico: Literature-Extracted Genetic Variants

Gene:DCTN3
Variant:p.H133Y

DCTN3

376 papers

RefSeq Summary

This gene encodes the smallest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It...

Pfam Domains

Dynactin_p22aa 6–170UCSCDynactin subunit p22

Gene Aliases

HGNC Name

dynactin subunit 3

HGNC Alias Symbol

DCTN-22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007234.5
p.H133Y
c.397C>T
Surrounding Variants
1 paper
NM_007234.5
p.H133L
c.398A>T
2 papers
NM_007234.5
p.I134I
c.402T>C
1 paper
NM_007234.5
p.A130T
c.388G>A
1 paper
NM_007234.5
p.R128_L129insFs
c.384_385insC
2 papers
NM_007234.5
p.Q137_D138Splc
c.411+1G>A
1 paper
NM_007234.5
p.R128C
c.382C>T
1 paper
NM_007234.5
p.Q127R
c.380A>G
1 paper
NM_007234.5
p.L126_Q127delFs
c.378_379delGC
1 paper
NM_007234.5
p.A124V
c.371C>T
1 paper
NM_007234.5
p.A124S
c.370G>T
1 paper
NM_007234.5
p.A123A
c.369T>A
1 paper
NM_007234.5
p.A123T
c.367G>A
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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."