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.F265fs

c.793_794fs

Surrounding Variants

1 paper

NM_000416.3

p.F265S

c.794T>C

1 paper

NM_000416.3

p.V264_F265insFs

c.792_793insT

1 paper

NM_000416.3

p.V264A

c.791T>C

3 papers

NM_000416.3

p.F265delFs

c.794delA

1 paper

NM_000416.3

p.V264I

c.790G>A

1 paper

NM_000416.3

p.I266fs

c.796_797fs

1 paper

NM_000416.3

p.F265_I266insFs

c.795_796insCT

1 paper

NM_000416.3

p.C267F

c.800G>T

1 paper

NM_000416.3

p.S262fs

c.784_785fs

1 paper

NM_000416.3

p.L261delFs

c.781delG

2 papers

NM_000416.3

p.Y269fs

c.805_806fs

1 paper

NM_000416.3

p.Y269F

c.806A>T