Varaico: Literature-Extracted Genetic Variants

Gene:IFT81
Variant:p.L262*

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
2 papers
NM_014055.4
p.L262*
c.785T>A
Surrounding Variants
4 papers
NM_014055.4
p.L262*
c.785T>G
1 paper
NM_014055.4
p.I270T
c.809T>C
1 paper
NM_014055.4
p.N273S
c.818A>G
1 paper
NM_014055.4
p.M276L
c.826A>C
1 paper
NM_014055.4
p.M276L
c.826A>T
1 paper
NM_014055.4
p.E284Q
c.850G>C
1 paper
NM_014055.4
p.V298_V299delFs
c.892_895del4
1 paper
NM_014055.4
p.V299I
c.895G>A
1 paper
NM_014055.4
p.V299insFs
c.896_897insT
1 paper
NM_014055.4
p.S300insFs
c.899_900insT
1 paper
NM_014055.4
p.E301fs
c.901_902fs
1 paper
NM_014055.4
p.E318K
c.952G>A
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