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

6 papers

NM_004082.5

p.E34Q

c.100G>C

Surrounding Variants

1 paper

NM_004082.5

p.E34D

c.102G>C

1 paper

NM_004082.5

p.E34E

c.102G>A

1 paper

NM_004082.5

p.V33_V35Fs

c.98_104delinsTCCFs

2 papers

NM_004082.5

p.R32H

c.95G>A

5 papers

NM_004082.5

p.R32C

c.94C>T

1 paper

NM_004082.5

p.R32S

c.94C>A

7 papers

NM_004082.5

p.G37R

c.109G>C

7 papers

NM_004082.5

p.G37R

c.109G>A

2 papers

NM_004082.5

p.R28insFs

c.84dupG

1 paper

NM_004082.5

p.R28Q

c.83G>A

1 paper

NM_004082.5

p.R28W

c.82C>T

2 papers

NM_004082.5

p.R41*

c.121C>T