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

13 papers

NM_000416.3

p.N274fs

c.820_821fs

Surrounding Variants

1 paper

NM_000416.3

p.N274H

c.820A>C

14 papers

NM_000416.3

p.I273delFs

c.818delA

1 paper

NM_000416.3

p.I273fs

c.817_818fs

1 paper

NM_000416.3

p.N274fs

c.820_821fs

6 papers

NM_000416.3

p.I273insFs

c.817dupA

2 papers

NM_000416.3

p.I273delFs

c.817delT

1 paper

NM_000416.3

p.I273fs

c.817_818fs

2 papers

NM_000416.3

p.P275S

c.823C>T

18 papers

NM_000416.3

p.I273_N274delFs

c.819_822del4

1 paper

NM_000416.3

p.K271_K272delFs

c.813_816del4

1 paper

NM_000416.3

p.K272fs

c.814_815fs

1 paper

NM_000416.3

p.P275_L276Fs

c.823_827delinsTTATATTAAFs