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

25 papers

NM_004082.5

p.Y78C

c.233A>G

Surrounding Variants

7 papers

NM_004082.5

p.Y78H

c.232T>C

46 papers

NM_004082.5

p.Q74P

c.221A>C

1 paper

NM_004082.5

p.E83delFs

c.247delC

1 paper

NM_004082.5

p.E83D

c.249A>T

1 paper

NM_004082.5

p.T72I

c.215C>T

1 paper

NM_004082.5

p.T72N

c.215C>A

38 papers

NM_004082.5

p.T72P

c.214A>C

6 papers

NM_004082.5

p.G71V

c.212G>T

42 papers

NM_004082.5

p.G71A

c.212G>C

42 papers

NM_004082.5

p.G71E

c.212G>A

58 papers

NM_004082.5

p.G71R

c.211G>C

58 papers

NM_004082.5

p.G71R

c.211G>A