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.A53V

c.158C>T

Surrounding Variants

2 papers

NM_004082.5

p.A53T

c.157G>A

1 paper

NM_004082.5

p.A53A

c.159C>T

31 papers

NM_004082.5

p.F52L

c.156T>G

31 papers

NM_004082.5

p.F52L

c.156T>A

1 paper

NM_004082.5

p.T54A

c.160A>G

4 papers

NM_004082.5

p.T54I

c.161C>T

30 papers

NM_004082.5

p.F52L

c.154T>C

1 paper

NM_004082.5

p.F52I

c.154T>A

1 paper

NM_004082.5

p.L51L

c.153G>C

1 paper

NM_004082.5

p.L51insFs

c.151_152insC

29 papers

NM_004082.5

p.K56R

c.167A>G

1 paper

NM_004082.5

p.G48R

c.142G>A