Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR2
Variant:p.R114H

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
2 papers
NM_005534.4
p.R114H
c.341G>A
Surrounding Variants
22 papers
NM_005534.4
p.R114C
c.340C>T
1 paper
NM_005534.4
p.L115I
c.343C>A
1 paper
NM_005534.4
p.L115F
c.343C>T
1 paper
NM_005534.4
p.L113V
c.337C>G
1 paper
NM_005534.4
p.L113L
c.337C>T
1 paper
NM_005534.4
p.R116*
c.346C>T
2 papers
NM_005534.4
p.T112_L113insFs
c.336_337insG
1 paper
NM_005534.4
p.R116insFs
c.347_348insT
2 papers
NM_005534.4
p.V111I
c.331G>A
2 papers
NM_005534.4
p.E118_L119delFs
c.354_357del4
1 paper
NM_005534.4
p.L119V
c.355C>G
1 paper
NM_005534.4
p.L119L
c.355C>T
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