Varaico: Literature-Extracted Genetic Variants

Gene:CSF2RB
Variant:p.S230I

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.S230I
c.689G>T
Surrounding Variants
1 paper
NM_000395.3
p.S237F
c.710C>T
1 paper
NM_000395.3
p.R221Q
c.662G>A
1 paper
NM_000395.3
p.R213W
c.637C>T
1 paper
NM_000395.3
p.V212I
c.634G>A
2 papers
NM_000395.3
p.R211*
c.631C>T
1 paper
NM_000395.3
p.R211fs
c.631_632fs
1 paper
NM_000395.3
p.R211delFs
c.631delC
1 paper
NM_000395.3
p.V209A
c.626T>C
3 papers
NM_000395.3
p.A185T
c.553G>A
1 paper
NM_000395.3
p.Q179*
c.535C>T
1 paper
NM_000395.3
p.R177W
c.529C>T
1 paper
NM_000395.3
p.S142N
c.425G>A
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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."