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.L283F

c.849A>C

Surrounding Variants

1 paper

NM_000416.3

p.L283F

c.849A>T

1 paper

NM_000416.3

p.L283S

c.848T>C

1 paper

NM_000416.3

p.P284L

c.851C>T

2 papers

NM_000416.3

p.P284delFs

c.850delG

3 papers

NM_000416.3

p.S286F

c.857C>T

1 paper

NM_000416.3

p.S280insFs

c.838dupA

1 paper

NM_000416.3

p.S280fs

c.838_839fs

3 papers

NM_000416.3

p.L287_I288Splc

c.861+2T>A

8 papers

NM_000416.3

p.E278*

c.832G>T

1 paper

NM_000416.3

p.K271_L276del0

c.811_828del18

1 paper

NM_000416.3

p.P275_L276Fs

c.823_827delinsTTATATTAAFs

2 papers

NM_000416.3

p.P275S

c.823C>T