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.E377D

c.1131G>T

Surrounding Variants

1 paper

NM_000416.3

p.E377D

c.1131G>C

3 papers

NM_000416.3

p.S378fs

c.1132_1133fs

2 papers

NM_000416.3

p.E377A

c.1130A>C

2 papers

NM_000416.3

p.S378N

c.1133G>A

1 paper

NM_000416.3

p.R376delFs

c.1128delT

4 papers

NM_000416.3

p.S378fs

c.1132_1133fs

7 papers

NM_000416.3

p.S378delFs

c.1132_1133delCT

1 paper

NM_000416.3

p.R376R

c.1128A>G

1 paper

NM_000416.3

p.S378del1

c.1132_1133delACT

1 paper

NM_000416.3

p.E375D

c.1125G>T

1 paper

NM_000416.3

p.E375D

c.1125G>C

1 paper

NM_000416.3

p.E375K

c.1123G>A