Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1I2
Variant:p.P369T

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001378.3
p.P369T
c.1105C>A
Surrounding Variants
1 paper
NM_001378.3
p.T352insFs
c.1055_1056insT
1 paper
NM_001378.3
p.L415F
c.1243C>T
1 paper
NM_001378.3
p.Q428R
c.1283A>G
1 paper
NM_001378.3
p.E453K
c.1357G>A
1 paper
NM_001378.3
p.H330P
c.989A>C
1 paper
NM_001378.3
p.Y327F
c.980A>T
1 paper
NM_001271786.2
p.H299L
c.896A>T
1 paper
NM_001378.3
p.Q290*
c.868C>T
NM_001271789.2
p.Q264*
c.790C>T
1 paper
NM_001271789.2
p.D247G
c.740A>G
1 paper
NM_001378.3
p.G477_P478delFs
c.1429_1433del5
1 paper
NM_001378.3
p.V488insFs
c.1463dupT
1 paper
NM_001378.3
p.G489fs
c.1465_1466fs
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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."