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.Q93R

c.278A>G

Surrounding Variants

10 papers

NM_004082.5

p.Q93H

c.279G>T

10 papers

NM_004082.5

p.Q93H

c.279G>C

1 paper

NM_004082.5

p.Q93K

c.277C>A

3 papers

NM_004082.5

p.Q93_I94Splc

c.279+1G>T

1 paper

NM_004082.5

p.Q93_I94Splc

c.279+1G>C

1 paper

NM_004082.5

p.Q93_I94Splc

c.279+1G>A

3 papers

NM_004082.5

p.Q93_I94Splc

c.279+2T>C

1 paper

NM_004082.5

p.Q91P

c.272A>C

1 paper

NM_004082.5

p.R90P

c.269G>C

2 papers

NM_004082.5

p.R90C

c.268C>T

1 paper

NM_004082.5

p.R90S

c.268C>A

5 papers

NM_004082.5

p.I87T

c.260T>C