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.Q1096K

c.3286C>A

Surrounding Variants

1 paper

NM_004082.5

p.Q1096*

c.3286C>T

1 paper

NM_004082.5

p.Q1096R

c.3287A>G

2 papers

NM_004082.5

p.L1094P

c.3281T>C

2 papers

NM_004082.5

p.S1098A

c.3292T>G

33 papers

NM_004082.5

p.R1101K

c.3302G>A

1 paper

NM_004082.5

p.H1103Y

c.3307C>T

2 papers

NM_004082.5

p.P1084S

c.3250C>T

1 paper

NM_004082.5

p.Q1108E

c.3322C>G

1 paper

NM_004082.5

p.Q1108H

c.3324G>T

1 paper

NM_004082.5

p.Q1108H

c.3324G>C

1 paper

NM_004082.5

p.E1110K

c.3328G>A

1 paper

NM_004082.5

p.V1081M

c.3241G>A