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.T1242I

c.3725C>T

Surrounding Variants

2 papers

NM_004082.5

p.D1241N

c.3721G>A

1 paper

NM_004082.5

p.M1245V

c.3733A>G

1 paper

NM_004082.5

p.Q1238E

c.3712C>G

1 paper

NM_004082.5

p.V1248M

c.3742G>A

38 papers

NM_004082.5

p.T1249I

c.3746C>T

1 paper

NM_004082.5

p.R1233_A1234Splc

c.3700-3C>T

1 paper

NM_004082.5

p.A1253V

c.3758C>T

4 papers

NM_004082.5

p.A1254S

c.3760G>T

1 paper

NM_004082.5

p.F1256C

c.3767T>G

5 papers

NM_004082.5

p.R1261Q

c.3782G>A

1 paper

NM_004082.5

p.V1263G

c.3788T>G

1 paper

NM_004082.5

p.Q1266K

c.3796C>A