Varaico: Literature-Extracted Genetic Variants

Gene:LIFR
Variant:p.S279P

LIFR

293 papers

RefSeq Summary

This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the actio...

Pfam Domains

LIFR_Naa 51–129UCSCLeukemia inhibitory factor receptor N-terminal domain
LIFR_D2aa 131–244UCSCLeukemia inhibitory factor receptor D2 domain
LIF-R_Ig-likeaa 254–330UCSCLeukemia inhibitory factor receptor, Ig-like domain
LIFR_D4aa 332–430UCSCLeukemia inhibitory factor receptor D4 domain
fn3aa 434–526UCSCFibronectin type III domain

Gene Aliases

HGNC Name

LIF receptor subunit alpha

HGNC Alias Symbol

CD118

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001127671.2
p.S279P
c.835T>C
Surrounding Variants
1 paper
NM_001127671.2
p.K276insFs
c.828dupA
1 paper
NM_001127671.2
p.V277fs
c.829_830fs
4 papers
NM_001127671.2
p.I282T
c.845T>C
1 paper
NM_001127671.2
p.E275*
c.823G>T
1 paper
NM_001127671.2
p.T268A
c.802A>G
1 paper
NM_001127671.2
p.D266N
c.796G>A
2 papers
NM_001127671.2
p.L292P
c.875T>C
1 paper
NM_001127671.2
p.G264S
c.790G>A
1 paper
NM_001127671.2
p.N303D
c.907A>G
1 paper
NM_001127671.2
p.S305T
c.913T>A
7 papers
NM_001127671.2
p.K253*
c.757A>T
10 papers
NM_001127671.2
p.T252insFs
c.756dupT
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