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

2 papers

NM_004082.5

p.R766W

c.2296C>T

Surrounding Variants

2 papers

NM_004082.5

p.R766Q

c.2297G>A

1 paper

NM_004082.5

p.V764I

c.2290G>A

3 papers

NM_004082.5

p.R768C

c.2302C>T

1 paper

NM_004082.5

p.R768H

c.2303G>A

1 paper

NM_004082.5

p.M760T

c.2279T>C

1 paper

NM_004082.5

p.Q772K

c.2314C>A

4 papers

NM_004082.5

p.M760V

c.2278A>G

1 paper

NM_004082.5

p.Q772R

c.2315A>G

2 papers

NM_004082.5

p.A756V

c.2267C>T

1 paper

NM_004082.5

p.S755insFs

c.2264dupG

1 paper

NM_004082.5

p.S755fs

c.2263_2264fs

1 paper

NM_004082.5

p.Q754P

c.2261A>C