Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2I1
Variant:p.R300L

DYNC2I1

101 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) and may facili...

Gene Aliases

HGNC Name

dynein 2 intermediate chain 1

HGNC Previous Symbol

WDR60

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018051.5
p.R300L
c.899G>T
Surrounding Variants
1 paper
NM_018051.5
p.G301V
c.902G>T
1 paper
NM_018051.5
p.H297Q
c.891C>A
1 paper
NM_018051.5
p.H297Q
c.891C>G
1 paper
NM_018051.5
p.H297Y
c.889C>T
1 paper
NM_018051.5
p.A314delFs
c.941delC
1 paper
NM_018051.5
p.V318E
c.953T>A
2 papers
NM_018051.5
p.K325insFs
c.975dupA
1 paper
NM_018051.5
p.R288K
c.863G>A
1 paper
NM_018051.5
p.S282L
c.845C>T
1 paper
NM_018051.5
p.D277G
c.830A>G
4 papers
NM_018051.5
p.Q273R
c.818A>G
1 paper
NM_018051.5
p.E270V
c.809A>T
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