Varaico: Literature-Extracted Genetic Variants

Gene:IFT81
Variant:p.R481*

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.R481*
c.1441C>T
Surrounding Variants
1 paper
NM_014055.4
p.R481R
c.1441C>A
1 paper
NM_014055.4
p.M489insFs
c.1467dupG
1 paper
NM_014055.4
p.V468G
c.1403T>G
1 paper
NM_014055.4
p.K452E
c.1354A>G
1 paper
NM_014055.4
p.K491R
c.1472A>G
1 paper
NM_014055.4
p.S495L
c.1484C>T
1 paper
NM_014055.4
p.S498_S506del9
c.1492_1517del27
1 paper
NM_014055.4
p.E499K
c.1495G>A
1 paper
NM_014055.4
p.E499*
c.1495G>T
1 paper
NM_014055.4
p.K500Q
c.1498A>C
6 papers
NM_014055.4
p.R512*
c.1534C>T
1 paper
NM_014055.4
p.R515C
c.1543C>T
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