Varaico: Literature-Extracted Genetic Variants

DCTN1

606 papers

RefSeq Summary

This gene encodes the largest 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. Dyn...

Pfam Domains

CAP_GLYaa 29–94UCSCCAP-Gly domain

Dynactinaa 523–805UCSCDynein associated protein

DUF8221aa 943–1034UCSCDomain of unknown function (DUF8221)

Gene Aliases

HGNC Name

dynactin subunit 1

HGNC Previous Name

dynactin 1 (p150, Glued (Drosophila) homolog)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004082.5

p.T778A

c.2332A>G

Surrounding Variants

1 paper

NM_004082.5

p.D779N

c.2335G>A

1 paper

NM_004082.5

p.I780L

c.2338A>C

4 papers

NM_004082.5

p.I780T

c.2339T>C

1 paper

NM_004082.5

p.G773V

c.2318G>T

35 papers

NM_004082.5

p.R785W

c.2353C>T

1 paper

NM_004082.5

p.R785Q

c.2354G>A

4 papers

NM_004082.5

p.D786G

c.2357A>G

1 paper

NM_004082.5

p.S790L

c.2369C>T

1 paper

NM_004082.5

p.C791F

c.2372G>T

1 paper

NM_004082.5

p.C791Y

c.2372G>A

1 paper

NM_004082.5

p.R795C

c.2383C>T

6 papers

NM_004082.5

p.R795H

c.2384G>A