Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2I1
Variant:p.R593L

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.R593L
c.1778G>T
Surrounding Variants
2 papers
NM_018051.5
p.R593W
c.1777C>T
1 paper
NM_018051.5
p.L588*
c.1763T>A
1 paper
NM_018051.5
p.L588*
c.1763T>G
1 paper
NM_018051.5
p.S569fs
c.1705_1706fs
1 paper
NM_018051.5
p.G568Splc
c.1703-1G>A
2 papers
NM_018051.5
p.G568Splc
c.1703-3T>A
1 paper
NM_018051.5
p.S562N
c.1685G>A
1 paper
NM_018051.5
p.G560R
c.1678G>A
1 paper
NM_018051.5
p.G560R
c.1678G>C
1 paper
NM_018051.5
p.P559S
c.1675C>T
1 paper
NM_018051.5
p.I544F
c.1630A>T
1 paper
NM_018051.5
p.T504T
c.1512T>C
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