Varaico: Literature-Extracted Genetic Variants

IFNGR1

438 papers

RefSeq Summary

This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is as...

Pfam Domains

Tissue_facaa 1–72UCSCTissue factor

Tissue_facaa 7–103UCSCTissue factor

IFNGR1_D2aa 90–199UCSCInterferon gamma receptor (IFNGR1), D2 domain

IFNGR1_transmaa 221–309UCSCInterferon gamma receptor 1, transmembrane region

Gene Aliases

HGNC Name

interferon gamma receptor 1

HGNC Alias Symbol

CD119

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000416.3

p.P431S

c.1291C>T

Surrounding Variants

1 paper

NM_000416.3

p.P431T

c.1291C>A

3 papers

NM_000416.3

p.P431L

c.1292C>T

1 paper

NM_000416.3

p.S426P

c.1276T>C

1 paper

NM_000416.3

p.G436D

c.1307G>A

1 paper

NM_000416.3

p.E437K

c.1309G>A

1 paper

NM_000416.3

p.S423N

c.1268G>A

1 paper

NM_000416.3

p.G442*

c.1324G>T

1 paper

NM_000416.3

p.E420*

c.1258G>T

1 paper

NM_000416.3

p.C418C

c.1254T>C

1 paper

NM_000416.3

p.C418R

c.1252T>C

2 papers

NM_000416.3

p.T447T

c.1341C>T

1 paper

NM_000416.3

p.T447T

c.1341C>G