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.A76V

c.227C>T

Surrounding Variants

1 paper

NM_000416.3

p.A76T

c.226G>A

7 papers

NM_000416.3

p.C77F

c.230G>T

13 papers

NM_000416.3

p.C77Y

c.230G>A

1 paper

NM_000416.3

p.D75N

c.223G>A

1 paper

NM_000416.3

p.I74N

c.221T>A

1 paper

NM_000416.3

p.W73C

c.219G>T

1 paper

NM_000416.3

p.W73C

c.219G>C

1 paper

NM_000416.3

p.W73*

c.219G>A

2 papers

NM_000416.3

p.N79S

c.236A>G

1 paper

NM_000416.3

p.W73R

c.217T>A

1 paper

NM_000416.3

p.I80V

c.238A>G

1 paper

NM_000416.3

p.I80T

c.239T>C