Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2I2

DYNC2I2

78 papers

RefSeq Summary

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may fac...

Pfam Domains

WD40aa 383–421UCSCWD domain, G-beta repeat
WD40aa 473–511UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

dynein 2 intermediate chain 2

HGNC Previous Symbol

WDR34

Papers
RefSeq ID
Protein change
DNA change
1–12 of 89 variants
8 papers
NM_052844.4
p.R182W
c.544C>T
8 papers
NM_052844.4
p.R182W
c.544C>T
6 papers
NM_052844.4
p.Q158*
c.472C>T
6 papers
NM_052844.4
p.R447W
c.1339C>T
4 papers
NM_052844.4
p.A22V
c.65C>T
4 papers
NM_052844.4
p.W60G
c.178T>G
4 papers
NM_052844.4
p.A341V
c.1022C>T
4 papers
NM_052844.4
p.T354M
c.1061C>T
4 papers
NM_052844.4
p.R447Q
c.1340G>A
4 papers
NM_052844.4
p.T514fs
c.1540_1541fs
3 papers
NM_052844.4
p.C148F
c.443G>T
3 papers
NM_052844.4
p.R206C
c.616C>T
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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."