Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2I1
Variant:p.Q631*

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
6 papers
NM_018051.5
p.Q631*
c.1891C>T
Surrounding Variants
1 paper
NM_018051.5
p.R607C
c.1819C>T
1 paper
NM_018051.5
p.R651*
c.1951C>T
1 paper
NM_018051.5
p.V658V
c.1974C>G
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.D673_Y676del4
c.2017_2027del12
1 paper
NM_018051.5
p.K691K
c.2073A>G
1 paper
NM_018051.5
p.R593L
c.1778G>T
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
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