Varaico: Literature-Extracted Genetic Variants

Gene:CSF2RB
Variant:p.R799C

CSF2RB

157 papers

RefSeq Summary

The protein encoded by this gene is the common beta chain of the high affinity receptor for IL-3, IL-5 and CSF. Defects in this gene have been reported to be associated with protein alveolar proteinos...

Pfam Domains

IL3Rb_Naa 28–116UCSCGM-CSF/IL-3/IL-5 receptor common beta subunit, N-terminal

Gene Aliases

HGNC Name

colony stimulating factor 2 receptor subunit beta

HGNC Previous Symbol

IL3RB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000395.3
p.R799C
c.2395C>T
Surrounding Variants
1 paper
NM_000395.3
p.S807Y
c.2420C>A
1 paper
NM_000395.3
p.Q809*
c.2425C>T
1 paper
NM_000395.3
p.P810A
c.2428C>G
1 paper
NM_000395.3
p.P810S
c.2428C>T
1 paper
NM_000395.3
p.E788*
c.2362G>T
1 paper
NM_000395.3
p.V785insFs
c.2355dupC
1 paper
NM_000395.3
p.V785fs
c.2353_2354fs
1 paper
NM_000395.3
p.Y822H
c.2464T>C
1 paper
NM_000395.3
p.P770insFs
c.2309_2310insA
1 paper
NM_000395.3
p.P770fs
c.2308_2309fs
1 paper
NM_000395.3
p.E768A
c.2303A>C
1 paper
NM_000395.3
p.Y766*
c.2298T>A
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."