Varaico: Literature-Extracted Genetic Variants

Gene:IL2RA
Variant:p.W8*

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.W8*
c.23G>A
Surrounding Variants
1 paper
NM_000417.3
p.W8C
c.24G>T
1 paper
NM_000417.3
p.W8*
c.24G>A
1 paper
NM_000417.3
p.M7K
c.20T>A
1 paper
NM_000417.3
p.L10L
c.28C>T
3 papers
NM_000417.3
p.L10P
c.29T>C
1 paper
NM_000417.3
p.L6P
c.17T>C
1 paper
NM_000417.3
p.L10L
c.30G>A
1 paper
NM_000417.3
p.L11V
c.31C>G
2 papers
NM_000417.3
p.L5R
c.14T>G
1 paper
NM_000417.3
p.L11P
c.32T>C
1 paper
NM_000417.3
p.L5Q
c.14T>A
1 paper
NM_000417.3
p.L11L
c.33C>T
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