Varaico: Literature-Extracted Genetic Variants

Gene:IL7R
Variant:p.H180P

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.H180P
c.539A>C
Surrounding Variants
3 papers
NM_002185.5
p.T179_H180Splc
c.538-1G>A
1 paper
NM_002185.5
p.N182H
c.544A>C
1 paper
NM_002185.5
p.N182I
c.545A>T
1 paper
NM_002185.5
p.L183*
c.548T>A
1 paper
NM_002185.5
p.L183*
c.548T>G
1 paper
NM_002185.5
p.S184delFs
c.552delC
1 paper
NM_002185.5
p.S184F
c.551C>T
1 paper
NM_002185.5
p.S184S
c.552C>A
1 paper
NM_002185.5
p.S185G
c.553A>G
18 papers
NM_002185.5
p.S185C
c.553A>T
1 paper
NM_002185.5
p.S185fs
c.553_554fs
1 paper
NM_002185.5
p.S185I
c.554G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."