Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.C278Y

IL2RG

482 papers

RefSeq Summary

The protein encoded by this gene is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain...

Pfam Domains

TSLPR_D1aa 60–146UCSCCytokine receptor-like factor 2, domain 1
CRLF2-like_D2aa 154–249UCSCCytokine receptor-like factor 2-like, D2 domain

Gene Aliases

HGNC Name

interleukin 2 receptor subunit gamma

HGNC Previous Symbols

SCIDX1; IMD4; CIDX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000206.3
p.C278Y
c.833G>A
Surrounding Variants
1 paper
NM_000206.3
p.C278W
c.834T>G
1 paper
NM_000206.3
p.V279M
c.835G>A
1 paper
NM_000206.3
p.V279fs
c.835_836fs
2 papers
NM_000206.3
p.V279delFs
c.835delC
1 paper
NM_000206.3
p.V279fs
c.835_836fs
1 paper
NM_000206.3
p.Y280insFs
c.838_839insG
1 paper
NM_000206.3
p.I274_Y280delFs
c.822_840del19
1 paper
NM_000206.3
p.S275fs
c.823_824fs
3 papers
NM_000206.3
p.I274_S275insFs
c.820_823dup4
1 paper
NM_000206.3
p.S275delFs
c.823delT
2 papers
NM_000206.3
p.S275fs
c.823_824fs
1 paper
NM_000206.3
p.W282R
c.844T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."