Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR2
Variant:p.V138Splc

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.V138Splc
c.413-25T>C
Surrounding Variants
9 papers
NM_005534.4
p.G141R
c.421G>A
10 papers
NM_005534.4
p.G141R
c.421G>C
1 paper
NM_005534.4
p.V138Splc
c.413-59A>G
1 paper
NM_005534.4
p.P142S
c.424C>T
1 paper
NM_005534.4
p.P142L
c.425C>T
1 paper
NM_005534.4
p.P143S
c.427C>T
1 paper
NM_005534.4
p.P143L
c.428C>T
3 papers
NM_005534.4
p.E147K
c.439G>A
1 paper
NM_005534.4
p.V148M
c.442G>A
1 paper
NM_005534.4
p.G151R
c.451G>C
1 paper
NM_005534.4
p.G151A
c.452G>C
1 paper
NM_005534.4
p.V138Splc
c.413-92T>C
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