Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2I2
Variant:p.L319L

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
1 paper
NM_052844.4
p.L319L
c.957G>A
Surrounding Variants
1 paper
NM_052844.4
p.T323P
c.967A>C
1 paper
NM_052844.4
p.F312S
c.935T>C
2 papers
NM_052844.4
p.V295A
c.884T>C
2 papers
NM_052844.4
p.K294N
c.882G>T
3 papers
NM_052844.4
p.K294N
c.882G>C
1 paper
NM_052844.4
p.T291T
c.873C>T
1 paper
NM_052844.4
p.P276A
c.826C>G
2 papers
NM_052844.4
p.K327_H328Splc
c.982-2A>C
1 paper
NM_052844.4
p.G331R
c.991G>A
2 papers
NM_052844.4
p.G336G
c.1008C>T
4 papers
NM_052844.4
p.A341V
c.1022C>T
1 paper
NM_052844.4
p.S344C
c.1030A>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."