Varaico: Literature-Extracted Genetic Variants

Gene:CSF2RB
Variant:p.S723*

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.S723*
c.2168C>A
Surrounding Variants
1 paper
NM_000395.3
p.S723*
c.2168C>G
1 paper
NM_000395.3
p.V728delFs
c.2184delC
1 paper
NM_000395.3
p.P732S
c.2194C>T
1 paper
NM_000395.3
p.S733delFs
c.2198delC
3 papers
NM_000395.3
p.S709fs
c.2125_2126fs
1 paper
NM_000395.3
p.S709fs
c.2125_2126fs
1 paper
NM_000395.3
p.A708fs
c.2122_2123fs
2 papers
NM_000395.3
p.A708delFs
c.2123delC
2 papers
NM_000395.3
p.T741I
c.2222C>T
2 papers
NM_000395.3
p.M697I
c.2091G>A
2 papers
NM_000395.3
p.M697I
c.2091G>C
2 papers
NM_000395.3
p.M697I
c.2091G>T
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