Varaico: Literature-Extracted Genetic Variants

Gene:IL2RA
Variant:p.E197insFs

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.E197insFs
c.590_591insT
Surrounding Variants
1 paper
NM_000417.3
p.K198*
c.592A>T
4 papers
NM_000417.3
p.K198Q
c.592A>C
1 paper
NM_000417.3
p.G195C
c.583G>T
3 papers
NM_000417.3
p.G195R
c.583G>C
1 paper
NM_000417.3
p.P203T
c.607C>A
1 paper
NM_000417.3
p.E204D
c.612A>T
4 papers
NM_000417.3
p.R206H
c.617G>A
1 paper
NM_000417.3
p.P207A
c.619C>G
1 paper
NM_000417.3
p.T211I
c.632C>T
1 paper
NM_000417.3
p.S212A
c.634T>G
1 paper
NM_000417.3
p.T218S
c.652A>T
1 paper
NM_000417.3
p.Q221E
c.661C>G
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