Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR2
Variant:p.C209*

IFNGR2

283 papers

RefSeq Summary

This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of m...

Pfam Domains

Tissue_facaa 4–126UCSCTissue factor
Interfer-bindaa 138–238UCSCInterferon-alpha/beta receptor, fibronectin type III

Gene Aliases

HGNC Name

interferon gamma receptor 2

HGNC Previous Symbol

IFNGT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005534.4
p.C209*
c.627T>A
Surrounding Variants
1 paper
NM_005534.4
p.A214T
c.640G>A
1 paper
NM_005534.4
p.W218_N219del1
c.653_655delGGA
1 paper
NM_005534.4
p.S221_S230del0
c.663_689del27
1 paper
NM_005534.4
p.S198P
c.592T>C
1 paper
NM_005534.4
p.I223T
c.668T>C
1 paper
NM_005534.4
p.R193fs
c.577_578fs
1 paper
NM_005534.4
p.R193insFs
c.577dupA
12 papers
NM_005534.4
p.G227R
c.679G>A
12 papers
NM_005534.4
p.G227R
c.679G>C
1 paper
NM_005534.4
p.H228D
c.682C>G
1 paper
NM_005534.4
p.V188_K189delFs
c.563_566del4
1 paper
NM_005534.4
p.I232V
c.694A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."