Varaico: Literature-Extracted Genetic Variants

Gene:IL2RA
Variant:p.E22Splc

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
4 papers
NM_000417.3
p.E22Splc
c.65-2A>G
Surrounding Variants
1 paper
NM_000417.3
p.E22Splc
c.65-1G>A
1 paper
NM_000417.3
p.E22A
c.65A>C
1 paper
NM_000417.3
p.E22Splc
c.65-6T>C
1 paper
NM_000417.3
p.L23V
c.67C>G
2 papers
NM_000417.3
p.L23I
c.67C>A
1 paper
NM_000417.3
p.D25N
c.73G>A
3 papers
NM_000417.3
p.D26H
c.76G>C
1 paper
NM_000417.3
p.D26N
c.76G>A
1 paper
NM_000417.3
p.D25_D26delFs
c.75_76delCG
1 paper
NM_000417.3
p.P28L
c.83C>T
1 paper
NM_000417.3
p.P29A
c.85C>G
1 paper
NM_000417.3
p.I31N
c.92T>A
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