Varaico: Literature-Extracted Genetic Variants

Gene:IL2RA
Variant:p.E22K

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.E22K
c.64G>A
Surrounding Variants
3 papers
NM_000417.3
p.E22Splc
c.64+1G>C
2 papers
NM_000417.3
p.E22Splc
c.64+1G>A
1 paper
NM_000417.3
p.Q20_E22delFs
c.60_64del5
2 papers
NM_000417.3
p.A21V
c.62C>T
1 paper
NM_000417.3
p.A21P
c.61G>C
1 paper
NM_000417.3
p.A21fs
c.61_62fs
2 papers
NM_000417.3
p.Q20*
c.58C>T
1 paper
NM_000417.3
p.C19Y
c.56G>A
1 paper
NM_000417.3
p.C19delFs
c.55delA
1 paper
NM_000417.3
p.G18G
c.54C>A
1 paper
NM_000417.3
p.M15T
c.44T>C
1 paper
NM_000417.3
p.M15K
c.44T>A
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