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

16 papers

NM_000416.3

p.L467P

c.1400T>C

Surrounding Variants

1 paper

NM_000416.3

p.L466V

c.1396C>G

1 paper

NM_000416.3

p.D465N

c.1393G>A

2 papers

NM_000416.3

p.L463_V464del0

c.1387_1392del6

1 paper

NM_000416.3

p.L463P

c.1388T>C

1 paper

NM_000416.3

p.V462_L463delFs

c.1386_1387delGC

1 paper

NM_000416.3

p.G472S

c.1414G>A

1 paper

NM_000416.3

p.S471_G472delFs

c.1411_1414del4

1 paper

NM_000416.3

p.S475delFs

c.1425delG

1 paper

NM_000416.3

p.D458H

c.1372G>C

1 paper

NM_000416.3

p.D458N

c.1372G>A

3 papers

NM_000416.3

p.I477T

c.1430T>C

1 paper

NM_000416.3

p.G456D

c.1367G>A