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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DYNC1I2

Variant:p.Q124R

DYNC1I2

43 papers

RefSeq Summary

This gene encodes a member of the dynein intermediate chain family. The encoded protein is a non-catalytic component of the cytoplasmic dynein 1 complex, which acts as a retrograde microtubule motor t...

Pfam Domains

Dynein_IC2aa 133–163UCSCCytoplasmic dynein 1 intermediate chain 2

WD40aa 468–510UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

dynein cytoplasmic 1 intermediate chain 2

HGNC Previous Symbol

DNCI2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:171712802 A>G

NM_001378.3

p.Q124R

c.371A>G

exact variant not in gnomAD132 overlapping SVs

Surrounding Variants

1 paper

chr2:171712763 T>C

NM_001378.3

p.R112Splc

c.336-4T>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a132 overlapping SVs

1 paper

chr2:171715363 C>T

NM_001378.3

p.T144M

c.431C>T

Dynein_IC2

Exome: 0.0% (AC=57, hom=1)Genome: 0.0% (AC=3, hom=0)132 overlapping SVs

1 paper

chr2:171715372 A>G

NM_001378.3

p.D147G

c.440A>G

Dynein_IC2

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=4, hom=0)132 overlapping SVs

1 paper

chr2:171715411 C>T

NM_001378.3

p.T160I

c.479C>T

Dynein_IC2

exact variant not in gnomAD132 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."