Varaico: Literature-Extracted Genetic Variants

Gene:IL2RA
Variant:p.R57S

IL2RA

559 papers

RefSeq Summary

The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result...

Pfam Domains

Sushiaa 24–82UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

interleukin 2 receptor subunit alpha

HGNC Previous Symbols

IL2R; IDDM10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000417.3
p.R57S
c.171A>T
Surrounding Variants
2 papers
NM_000417.3
p.R57K
c.170G>A
1 paper
NM_000417.3
p.R56fs
c.166_167fs
1 paper
NM_000417.3
p.R56delFs
c.166delG
1 paper
NM_000417.3
p.F55I
c.163T>A
1 paper
NM_000417.3
p.S60N
c.179G>A
1 paper
NM_000417.3
p.G61W
c.181G>T
2 papers
NM_000417.3
p.G61R
c.181G>C
1 paper
NM_000417.3
p.G61R
c.181G>A
1 paper
NM_000417.3
p.R53K
c.158G>A
5 papers
NM_000417.3
p.L63P
c.188T>C
1 paper
NM_000417.3
p.Y64insFs
c.190_191ins20
1 paper
NM_000417.3
p.C51G
c.151T>G
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