Varaico: Literature-Extracted Genetic Variants

Gene:IFT81
Variant:p.L29F

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
3 papers
NM_014055.4
p.L29F
c.87G>C
Surrounding Variants
3 papers
NM_014055.4
p.L29F
c.87G>T
1 paper
NM_014055.4
p.Q33R
c.98A>G
1 paper
NM_014055.4
p.Q36E
c.106C>G
1 paper
NM_014055.4
p.Q36Q
c.108A>G
1 paper
NM_014055.4
p.Y21N
c.61T>A
1 paper
NM_014055.4
p.D40G
c.119A>G
1 paper
NM_014055.4
p.A43D
c.128C>A
1 paper
NM_014055.4
p.K14fs
c.40_41fs
1 paper
NM_014055.4
p.D10A
c.29A>C
1 paper
NM_014055.4
p.T61A
c.181A>G
1 paper
NM_014055.4
p.K63delFs
c.189delA
2 papers
NM_014055.4
p.R64*
c.190C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."