Varaico: Literature-Extracted Genetic Variants

Gene:ACTR1B
Variant:p.F211L

ACTR1B

45 papers

RefSeq Summary

This gene encodes a 42.3 kD 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 and is...

Pfam Domains

Actinaa 7–376UCSCActin

Gene Aliases

HGNC Name

actin related protein 1B

HGNC Previous Symbol

CTRN2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005735.4
p.F211L
c.633T>A
Surrounding Variants
2 papers
NM_005735.4
p.F211L
c.633T>G
2 papers
NM_005735.4
p.F211L
c.631T>C
1 paper
NM_005735.4
p.S208S
c.624G>A
1 paper
NM_005735.4
p.R199C
c.595C>T
1 paper
NM_005735.4
p.V190I
c.568G>A
2 papers
NM_005735.4
p.R182W
c.544C>T
1 paper
NM_005735.4
p.H178fs
c.532_533fs
1 paper
NM_005735.4
p.G173S
c.517G>A
1 paper
NM_005735.4
p.D231A
c.692A>C
1 paper
NM_005735.4
p.T236M
c.707C>T
1 paper
NM_005735.4
p.R257Q
c.770G>A
1 paper
NM_005735.4
p.A258S
c.772G>T
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