Varaico: Literature-Extracted Genetic Variants

Gene:IL7R
Variant:p.L243Q

IL7R

720 papers

RefSeq Summary

The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by ...

Pfam Domains

FN3_7aa 32–127UCSCFibronectin type III domain
fn3aa 130–224UCSCFibronectin type III domain

Gene Aliases

HGNC Name

interleukin 7 receptor

HGNC Alias Symbols

CD127; IL7RA; lnc-IL7R; IL-7Ralpha; IL7Ralpha; sIL-7R; CDw127

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002185.5
p.L243Q
c.728T>A
Surrounding Variants
1 paper
NM_002185.5
p.L243R
c.728T>G
2 papers
NM_002185.5
p.T244ins3
c.730_731ins9
1 paper
NM_002185.5
p.T244delFs
c.730delA
1 paper
NM_002185.5
p.L243_I245delFs
c.729_733del5
3 papers
NM_002185.5
p.T244ins3
c.731_732ins9
3 papers
NM_002185.5
p.L243_T244insFs
c.729_730ins8
1 paper
NM_002185.5
p.L243_T244ins5
c.729_730ins15
1 paper
NM_002185.5
p.L243_T244ins2
c.729_730ins6
1 paper
NM_002185.5
p.L243_T244delins
c.729_731delinsGTC
1 paper
NM_002185.5
p.L243insFs
c.727_728ins7
1 paper
NM_002185.5
p.L243ins2
c.727_728ins6
1 paper
NM_002185.5
p.L243ins7
c.727_728ins21
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