Varaico: Literature-Extracted Genetic Variants

Gene:IL7R
Variant:p.P129L

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.P129L
c.386C>T
Surrounding Variants
1 paper
NM_002185.5
p.E130Q
c.388G>C
1 paper
NM_002185.5
p.P132A
c.394C>G
6 papers
NM_002185.5
p.P132S
c.394C>T
1 paper
NM_002185.5
p.P132H
c.395C>A
1 paper
NM_002185.5
p.F133L
c.399T>A
1 paper
NM_002185.5
p.D134Y
c.400G>T
2 papers
NM_002185.5
p.L135R
c.404T>G
1 paper
NM_002185.5
p.S136N
c.407G>A
1 paper
NM_002185.5
p.S136T
c.407G>C
1 paper
NM_002185.5
p.V138_Y139delFs
c.412_415del4
43 papers
NM_002185.5
p.V138I
c.412G>A
1 paper
NM_002185.5
p.V138fs
c.412_413fs
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