Varaico: Literature-Extracted Genetic Variants

Gene:CSF2RB
Variant:p.K838*

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.K838*
c.2512A>T
Surrounding Variants
2 papers
NM_000395.3
p.P842L
c.2525C>T
1 paper
NM_000395.3
p.P842P
c.2526G>A
1 paper
NM_000395.3
p.L833V
c.2497C>G
1 paper
NM_000395.3
p.P832T
c.2494C>A
1 paper
NM_000395.3
p.P832fs
c.2494_2495fs
1 paper
NM_000395.3
p.P832delFs
c.2495_2496delCT
1 paper
NM_000395.3
p.Q853*
c.2557C>T
1 paper
NM_000395.3
p.Y822H
c.2464T>C
1 paper
NM_000395.3
p.P860P
c.2580C>T
1 paper
NM_000395.3
p.G862D
c.2585G>A
1 paper
NM_000395.3
p.Q863K
c.2587C>A
1 paper
NM_000395.3
p.P810A
c.2428C>G
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