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

1–12 of 425 variants

32 papers

NM_000416.3

p.M19T

c.56T>C

26 papers

NM_000416.3

p.I87T

c.260T>C

25 papers

NM_000416.3

p.V14M

c.40G>A

21 papers

NM_000416.3

p.R292*

c.874A>T

18 papers

NM_000416.3

p.I273_N274delFs

c.819_822del4

16 papers

NM_000416.3

p.L467P

c.1400T>C

14 papers

NM_000416.3

p.Y175delFs

c.523delA

14 papers

NM_000416.3

p.I273delFs

c.818delA

13 papers

NM_000416.3

p.C77Y

c.230G>A

13 papers

NM_000416.3

p.N274fs

c.820_821fs

12 papers

NM_000416.3

p.V63G

c.188T>G

10 papers

NM_000416.3

p.P44delFs

c.131delG