Varaico: Literature-Extracted Genetic Variants

Gene:CSF2RB
Variant:p.V449M

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.V449M
c.1345G>A
Surrounding Variants
4 papers
NM_000395.3
p.V449E
c.1346T>A
2 papers
NM_000395.3
p.V444M
c.1330G>A
1 paper
NM_000395.3
p.A455T
c.1363G>A
5 papers
NM_000395.3
p.A455D
c.1364C>A
1 paper
NM_000395.3
p.P441A
c.1321C>G
1 paper
NM_000395.3
p.L460V
c.1378C>G
1 paper
NM_000395.3
p.L460L
c.1380C>T
8 papers
NM_000395.3
p.R461C
c.1381C>T
1 paper
NM_000395.3
p.R461H
c.1382G>A
1 paper
NM_000395.3
p.R461_F462insFs
c.1383_1384ins20
1 paper
NM_000395.3
p.G467R
c.1399G>A
1 paper
NM_000395.3
p.G467R
c.1399G>C
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