Varaico: Literature-Extracted Genetic Variants

Gene:IFT81
Variant:p.L614P

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.L614P
c.1841T>C
Surrounding Variants
1 paper
NM_014055.4
p.K616_K617Splc
c.1848+43C>A
2 papers
NM_014055.4
p.R601K
c.1802G>A
1 paper
NM_014055.4
p.E595K
c.1783G>A
1 paper
NM_014055.4
p.Q594R
c.1781A>G
1 paper
NM_014055.4
p.R580C
c.1738C>T
1 paper
NM_014055.4
p.C569del1
c.1705_1707delTGT
1 paper
NM_014055.4
p.Y564H
c.1690T>C
1 paper
NM_014055.4
p.E560K
c.1678G>A
1 paper
NM_014055.4
p.E555K
c.1663G>A
1 paper
NM_014055.4
p.R626*
c.1876C>T
1 paper
NM_014055.4
p.Q644*
c.1930C>T
2 papers
NM_014055.4
p.L645*
c.1934T>A
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