Varaico: Literature-Extracted Genetic Variants

Gene:IL2RA
Variant:p.E100K

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.E100K
c.298G>A
Surrounding Variants
1 paper
NM_000417.3
p.E99Q
c.295G>C
1 paper
NM_000417.3
p.E99K
c.295G>A
3 papers
NM_000417.3
p.Q101*
c.301C>T
1 paper
NM_000417.3
p.K102R
c.305A>G
1 paper
NM_000417.3
p.K102delFs
c.305delT
1 paper
NM_000417.3
p.P96P
c.288T>A
1 paper
NM_000417.3
p.T95delFs
c.284delG
1 paper
NM_000417.3
p.V94A
c.281T>C
10 papers
NM_000417.3
p.T106T
c.318C>T
1 paper
NM_000417.3
p.T107A
c.319A>G
1 paper
NM_000417.3
p.K105_T106delFs
c.315_318del4
1 paper
NM_000417.3
p.K92R
c.275A>G
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