Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR2
Variant:p.Q45L

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.Q45L
c.134A>T
Surrounding Variants
2 papers
NM_005534.4
p.Q45Q
c.135G>A
1 paper
NM_005534.4
p.V46I
c.136G>A
1 paper
NM_005534.4
p.E44K
c.130G>A
7 papers
NM_005534.4
p.A43V
c.128C>T
1 paper
NM_005534.4
p.L47L
c.141G>A
2 papers
NM_005534.4
p.Y41*
c.123C>A
2 papers
NM_005534.4
p.Y41*
c.123C>G
1 paper
NM_005534.4
p.L40L
c.118C>T
1 paper
NM_005534.4
p.P51_V62del12
c.151_185del36
1 paper
NM_005534.4
p.R39C
c.115C>T
1 paper
NM_005534.4
p.V52M
c.154G>A
1 paper
NM_005534.4
p.V52A
c.155T>C
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