Varaico: Literature-Extracted Genetic Variants

Gene:CNTFR

CNTFR

48 papers

RefSeq Summary

This gene encodes a member of the type 1 cytokine receptor family. The encoded protein is the ligand-specific component of a tripartite receptor for ciliary neurotrophic factor, which plays a critical...

Pfam Domains

fn3aa 205–297UCSCFibronectin type III domain

Gene Aliases

HGNC Name

ciliary neurotrophic factor receptor

Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
2 papers
NM_147164.3
p.F90I
c.268T>A
2 papers
NM_147164.3
p.E236_S237Fs
c.708_709delinsTFs
2 papers
NM_147164.3
p.T266A
c.796A>G
2 papers
NM_147164.3
p.T268A
c.802A>G
2 papers
NM_147164.3
p.D269A
c.806A>C
2 papers
NM_147164.3
p.N285K
c.855T>G
2 papers
NM_147164.3
p.N285K
c.855T>A
1 paper
NM_147164.3
p.P6delFs
c.17_18delCG
1 paper
NM_147164.3
p.A15insFs
c.45dupC
1 paper
NM_147164.3
p.A17_A18del1
c.51_53delGCG
1 paper
NM_147164.3
p.A17_A18del2
c.49_53del6
1 paper
NM_147164.3
p.P31T
c.91C>A
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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."