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.T336_E337insG

c.1006_1010ins3

Surrounding Variants

5 papers

NM_000416.3

p.H335P

c.1004A>C

1 paper

NM_000416.3

p.E337*

c.1009G>T

1 paper

NM_000416.3

p.H335Y

c.1003C>T

1 paper

NM_000416.3

p.E337_D338delFs

c.1011_1012delCT

2 papers

NM_000416.3

p.G341R

c.1021G>A

1 paper

NM_000416.3

p.T330A

c.988A>G

1 paper

NM_000416.3

p.V343L

c.1027G>C

1 paper

NM_000416.3

p.V343M

c.1027G>A

1 paper

NM_000416.3

p.P328S

c.982C>T

1 paper

NM_000416.3

p.S327A

c.979T>G

2 papers

NM_000416.3

p.H345R

c.1034A>G

1 paper

NM_000416.3

p.H345insFs

c.1035dupT