Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0586
Variant:p.H44insFs

KIAA0586

150 papers

RefSeq Summary

This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in ...

Pfam Domains

TALPID3aa 31–1272UCSCHedgehog signalling target

Gene Aliases

HGNC Alias Symbols

Talpid3; JBTS23

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001244189.2
p.H44insFs
c.130dupC
Surrounding Variants
3 papers
NM_001244189.2
p.H44fs
c.130_131fs
1 paper
NM_001329943.3
p.L33L
c.99G>A
1 paper
NM_001329943.3
p.S26insFs
c.78dupT
1 paper
NM_001329943.3
p.V25delFs
c.74delT
1 paper
NM_001329943.3
p.E39ins10
c.116_117ins30
1 paper
NM_001244190.2
p.L25delFs
c.74delT
1 paper
NM_001329943.3
p.R22G
c.64C>G
1 paper
NM_001329943.3
p.C42*
c.126T>A
1 paper
NM_001244189.2
p.R32insFs
c.94dupA
3 papers
NM_001329943.3
p.P44insFs
c.130dupC
1 paper
NM_001244190.2
p.M1T
c.2T>C
1 paper
NM_001329943.3
p.K15delFs
c.44delA
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