Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2I1
Variant:p.S730_R731delFs

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.S730_R731delFs
c.2190_2191delAA
Surrounding Variants
1 paper
NM_018051.5
p.S735F
c.2204C>T
1 paper
NM_018051.5
p.G719S
c.2155G>A
1 paper
NM_018051.5
p.A714_G715del2
c.2140_2144del6
5 papers
NM_018051.5
p.T749M
c.2246C>T
1 paper
NM_018051.5
p.D753Splc
c.2257+1G>A
1 paper
NM_018051.5
p.P706S
c.2116C>T
1 paper
NM_018051.5
p.K691K
c.2073A>G
1 paper
NM_018051.5
p.D673_Y676del4
c.2017_2027del12
1 paper
NM_018051.5
p.D662E
c.1986C>A
1 paper
NM_018051.5
p.D662E
c.1986C>G
1 paper
NM_018051.5
p.V658V
c.1974C>G
1 paper
NM_018051.5
p.R651*
c.1951C>T
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