Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2I2
Variant:p.R206C

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
Selected Variant
3 papers
NM_052844.4
p.R206C
c.616C>T
Surrounding Variants
1 paper
NM_052844.4
p.V195M
c.583G>A
8 papers
NM_052844.4
p.R182W
c.544C>T
8 papers
NM_052844.4
p.R182W
c.544C>T
1 paper
NM_052844.4
p.S239I
c.716G>T
6 papers
NM_052844.4
p.Q158*
c.472C>T
1 paper
NM_052844.4
p.R249H
c.746G>A
3 papers
NM_052844.4
p.C148F
c.443G>T
1 paper
NM_052844.4
p.S147fs
c.439_440fs
1 paper
NM_052844.4
p.T261R
c.782C>G
1 paper
NM_052844.4
p.P276A
c.826C>G
1 paper
NM_052844.4
p.T291T
c.873C>T
2 papers
NM_052844.4
p.K294N
c.882G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."