Varaico: Literature-Extracted Genetic Variants

Gene:IFT81
Variant:p.I417L

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.I417L
c.1249A>T
Surrounding Variants
1 paper
NM_014055.4
p.E424delFs
c.1270_1271delGA
1 paper
NM_014055.4
p.T409I
c.1226C>T
1 paper
NM_014055.4
p.K407N
c.1221G>C
1 paper
NM_014055.4
p.K407N
c.1221G>T
1 paper
NM_014055.4
p.L428W
c.1283T>G
2 papers
NM_014055.4
p.R405*
c.1213C>T
1 paper
NM_014055.4
p.N402_K403del1
c.1206_1208delTAA
3 papers
NM_014055.4
p.L435del1
c.1303_1304delCTT
1 paper
NM_014055.4
p.R399*
c.1195C>T
1 paper
NM_014055.4
p.R438insFs
c.1312dupC
1 paper
NM_014055.4
p.Q437Q
c.1311A>G
1 paper
NM_014055.4
p.Q445insFs
c.1335dupA
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