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

2 papers

NM_000416.3

p.E156K

c.466G>A

Surrounding Variants

1 paper

NM_000416.3

p.D155A

c.464A>C

1 paper

NM_000416.3

p.G154ins0

c.460_462dupGGA

1 paper

NM_000416.3

p.Q157insFs

c.470_471insTT

1 paper

NM_000416.3

p.G154R

c.460G>A

2 papers

NM_000416.3

p.N153S

c.458A>G

1 paper

NM_000416.3

p.V152delFs

c.454delC

1 paper

NM_000416.3

p.F151insFs

c.453dupT

3 papers

NM_000416.3

p.F151delFs

c.453delA

1 paper

NM_000416.3

p.F151fs

c.451_452fs

1 paper

NM_000416.3

p.E156_Y161delFs

c.467_483del17

3 papers

NM_000416.3

p.S149L

c.446C>T

1 paper

NM_000416.3

p.S149*

c.446C>G