Varaico: Literature-Extracted Genetic Variants

Gene:IFT74
Variant:p.E285*

IFT74

112 papers

RefSeq Summary

This gene encodes a core intraflagellar transport (IFT) protein which belongs to a multi-protein complex involved in the transport of ciliary proteins along axonemal microtubules. IFT proteins are fou...

Gene Aliases

HGNC Name

intraflagellar transport 74

HGNC Alias Symbols

CMG1; CMG-1; FLJ22621

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_025103.4
p.E285*
c.853G>T
Surrounding Variants
1 paper
NM_025103.4
p.R288*
c.862C>T
1 paper
NM_025103.4
p.D295Fs
c.884delinsTTAFs
2 papers
NM_025103.4
p.E303insFs
c.909dupA
1 paper
NM_025103.4
p.E264delFs
c.791_792delAA
1 paper
NM_025103.4
p.K313N
c.939A>C
1 paper
NM_025103.4
p.K313N
c.939A>T
2 papers
NM_025103.4
p.Q325Splc
c.974+4A>G
1 paper
NM_025103.4
p.Q325Splc
c.974+7A>G
2 papers
NM_025103.4
p.A263_E264Splc
c.789+2T>G
1 paper
NM_025103.4
p.A263insFs
c.788dupC
1 paper
NM_025103.4
p.Q248*
c.742C>T
1 paper
NM_025103.4
p.E243Q
c.727G>C
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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."