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.E83delFs

c.247delC

Surrounding Variants

1 paper

NM_004082.5

p.E83D

c.249A>T

2 papers

NM_004082.5

p.G86R

c.256G>C

1 paper

NM_004082.5

p.I87V

c.259A>G

5 papers

NM_004082.5

p.I87T

c.260T>C

25 papers

NM_004082.5

p.Y78C

c.233A>G

7 papers

NM_004082.5

p.Y78H

c.232T>C

2 papers

NM_004082.5

p.R90C

c.268C>T

1 paper

NM_004082.5

p.R90S

c.268C>A

1 paper

NM_004082.5

p.R90P

c.269G>C

1 paper

NM_004082.5

p.Q91P

c.272A>C

46 papers

NM_004082.5

p.Q74P

c.221A>C

1 paper

NM_004082.5

p.Q93K

c.277C>A