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

1–12 of 670 variants

112 papers

NM_004082.5

p.G59S

c.175G>A

58 papers

NM_004082.5

p.G71R

c.211G>C

58 papers

NM_004082.5

p.G71R

c.211G>A

46 papers

NM_004082.5

p.Q74P

c.221A>C

42 papers

NM_004082.5

p.G71A

c.212G>C

42 papers

NM_004082.5

p.G71E

c.212G>A

38 papers

NM_004082.5

p.T72P

c.214A>C

38 papers

NM_004082.5

p.T1249I

c.3746C>T

35 papers

NM_004082.5

p.R785W

c.2353C>T

33 papers

NM_004082.5

p.R1101K

c.3302G>A

31 papers

NM_004082.5

p.F52L

c.156T>G

31 papers

NM_004082.5

p.F52L

c.156T>A