Varaico: Literature-Extracted Genetic Variants

Gene:IL7R
Variant:p.S252fs

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
1 paper
NM_002185.5
p.S252fs
c.754_755fs
Surrounding Variants
1 paper
NM_002185.5
p.S252_A254delFs
c.755_761del7
1 paper
NM_002185.5
p.S252Y
c.755C>A
1 paper
NM_002185.5
p.S252_A254delins
c.755_761delinsGGAA
1 paper
NM_002185.5
p.F251S
c.752T>C
1 paper
NM_002185.5
p.F251delins
c.752delinsGCCA
2 papers
NM_002185.5
p.F251insFs
c.753dupC
1 paper
NM_002185.5
p.V253L
c.757G>C
1 paper
NM_002185.5
p.V253ins3
c.757_758ins9
1 paper
NM_002185.5
p.F251fs
c.751_752fs
1 paper
NM_002185.5
p.F251fs
c.751_752fs
1 paper
NM_002185.5
p.V253A
c.758T>C
8 papers
NM_002185.5
p.V253G
c.758T>G
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