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.S95*

c.284C>A

Surrounding Variants

1 paper

NM_000416.3

p.S95L

c.284C>T

1 paper

NM_000416.3

p.S95*

c.284C>G

2 papers

NM_000416.3

p.S95delFs

c.284delG

1 paper

NM_000416.3

p.P94L

c.281C>T

1 paper

NM_000416.3

p.N96K

c.288T>A

1 paper

NM_000416.3

p.P94S

c.280C>T

1 paper

NM_000416.3

p.D93delFs

c.278delT

1 paper

NM_000416.3

p.S97F

c.290C>T

1 paper

NM_000416.3

p.L98F

c.292C>T

8 papers

NM_000416.3

p.W99R

c.295T>C

7 papers

NM_000416.3

p.W99R

c.295T>A

7 papers

NM_000416.3

p.H90H

c.270T>C