Varaico: Literature-Extracted Genetic Variants

Gene:IFT81
Variant:p.L122fs

IFT81

80 papers

RefSeq Summary

The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the ...

Pfam Domains

IFT81_CHaa 3–126UCSCIntraflagellar transport 81 calponin homology domain

Gene Aliases

HGNC Name

intraflagellar transport 81

HGNC Previous Symbol

CDV1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014055.4
p.L122fs
c.364_365fs
Surrounding Variants
2 papers
NM_014055.4
p.L122*
c.365T>A
2 papers
NM_014055.4
p.L122*
c.365T>G
2 papers
NM_014055.4
p.R120H
c.359G>A
1 paper
NM_014055.4
p.R120insFs
c.359_360insT
2 papers
NM_014055.4
p.D134G
c.401A>G
1 paper
NM_014055.4
p.Q107*
c.319C>T
1 paper
NM_014055.4
p.D139N
c.415G>A
1 paper
NM_014055.4
p.N141S
c.422A>G
1 paper
NM_014055.4
p.Y99*
c.297C>A
1 paper
NM_014055.4
p.Y99*
c.297C>G
1 paper
NM_014055.4
p.R87H
c.260G>A
1 paper
NM_014055.4
p.R87C
c.259C>T
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