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.A20E

c.59C>A

Surrounding Variants

2 papers

NM_004082.5

p.A20V

c.59C>T

1 paper

NM_004082.5

p.E21K

c.61G>A

1 paper

NM_004082.5

p.S19N

c.56G>A

1 paper

NM_004082.5

p.E21G

c.62A>G

1 paper

NM_004082.5

p.R17M

c.50G>T

1 paper

NM_004082.5

p.R17K

c.50G>A

1 paper

NM_004082.5

p.S23_A24insFs

c.69_70insG

2 papers

NM_004082.5

p.A24V

c.71C>T

1 paper

NM_004082.5

p.R25W

c.73C>T

1 paper

NM_004082.5

p.G15G

c.45C>T

1 paper

NM_004082.5

p.R25insFs

c.74_75insT

2 papers

NM_004082.5

p.G15S

c.43G>A