Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR2
Variant:p.D71N

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.D71N
c.211G>A
Surrounding Variants
1 paper
NM_005534.4
p.S72N
c.215G>A
3 papers
NM_005534.4
p.Y69Splc
c.207-1G>A
2 papers
NM_005534.4
p.T76M
c.227C>T
2 papers
NM_005534.4
p.M80T
c.239T>C
1 paper
NM_005534.4
p.S81Y
c.242C>A
2 papers
NM_005534.4
p.V84M
c.250G>A
1 paper
NM_005534.4
p.C86Y
c.257G>A
2 papers
NM_005534.4
p.D95delFs
c.284delA
2 papers
NM_005534.4
p.A98T
c.292G>A
1 paper
NM_005534.4
p.A99_S102del0
c.295_306del12
1 paper
NM_005534.4
p.Y69Splc
c.207-80G>A
1 paper
NM_005534.4
p.A99_F105delFs
c.297_313del17
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