Varaico: Literature-Extracted Genetic Variants

Gene:IL2RA
Variant:p.H172L

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.H172L
c.515A>T
Surrounding Variants
1 paper
NM_000417.3
p.G173R
c.517G>C
1 paper
NM_000417.3
p.G173R
c.517G>A
1 paper
NM_000417.3
p.G173insFs
c.518_519insT
1 paper
NM_000417.3
p.T171A
c.511A>G
1 paper
NM_000417.3
p.M170V
c.508A>G
3 papers
NM_000417.3
p.C168*
c.504C>A
1 paper
NM_000417.3
p.R176W
c.526A>T
1 paper
NM_000417.3
p.R176K
c.527G>A
1 paper
NM_000417.3
p.C168Y
c.503G>A
2 papers
NM_000417.3
p.W177*
c.530G>A
1 paper
NM_000417.3
p.W177*
c.531G>A
1 paper
NM_000417.3
p.V167I
c.499G>A
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