Varaico: Literature-Extracted Genetic Variants

Gene:CNTFR
Variant:p.A17_A18del2

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
Selected Variant
1 paper
NM_147164.3
p.A17_A18del2
c.49_53del6
Surrounding Variants
1 paper
NM_147164.3
p.A17_A18del1
c.51_53delGCG
1 paper
NM_147164.3
p.A15insFs
c.45dupC
1 paper
NM_147164.3
p.P6delFs
c.17_18delCG
1 paper
NM_147164.3
p.P31T
c.91C>A
1 paper
NM_147164.3
p.Q34K
c.100C>A
1 paper
NM_147164.3
p.R37P
c.110G>C
1 paper
NM_147164.3
p.L38P
c.113T>C
1 paper
NM_147164.3
p.C46Y
c.137G>A
1 paper
NM_147164.3
p.W51R
c.151T>A
1 paper
NM_147164.3
p.W51_A53del3
c.151_158del9
1 paper
NM_147164.3
p.R58W
c.172C>T
1 paper
NM_147164.3
p.L68P
c.203T>C
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