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.G125Splc

c.373+2T>C

Surrounding Variants

9 papers

NM_000416.3

p.G125Splc

c.373+1G>T

1 paper

NM_000416.3

p.D124N

c.370G>A

1 paper

NM_000416.3

p.R123Q

c.368G>A

2 papers

NM_000416.3

p.R123*

c.367C>T

1 paper

NM_000416.3

p.A120S

c.358G>T

2 papers

NM_000416.3

p.E118_F119delFs

c.354_357del4

2 papers

NM_000416.3

p.E118*

c.352G>T

1 paper

NM_000416.3

p.E118K

c.352G>A

1 paper

NM_000416.3

p.E117K

c.349G>A

3 papers

NM_000416.3

p.S116*

c.347C>G

1 paper

NM_000416.3

p.S116insFs

c.347_348insT

5 papers

NM_000416.3

p.S116*

c.347C>A