Varaico: Literature-Extracted Genetic Variants

Gene:IL7R
Variant:p.F250_F251del1

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.F250_F251del1
c.750_752delTTT
Surrounding Variants
2 papers
NM_002185.5
p.F251delFs
c.752delT
1 paper
NM_002185.5
p.S249insFs
c.745_746ins14
1 paper
NM_002185.5
p.S249fs
c.745_746fs
2 papers
NM_002185.5
p.S249_F250del1
c.746_748delGTT
1 paper
NM_002185.5
p.S249_F250delFs
c.746_750del5
1 paper
NM_002185.5
p.S249_F250del0
c.745_750del6
1 paper
NM_002185.5
p.L248*
c.743T>A
1 paper
NM_002185.5
p.F251del1
c.751_753delTTC
1 paper
NM_002185.5
p.I247Fs
c.741delinsCCFs
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.F251S
c.752T>C
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