Varaico: Literature-Extracted Genetic Variants

Gene:CSF2RB
Variant:p.Q324H

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.Q324H
c.972G>T
Surrounding Variants
1 paper
NM_000395.3
p.Q324H
c.972G>C
1 paper
NM_000395.3
p.S322F
c.965C>T
1 paper
NM_000395.3
p.V321I
c.961G>A
2 papers
NM_000395.3
p.T315I
c.944C>T
3 papers
NM_000395.3
p.D312N
c.934G>A
1 paper
NM_000395.3
p.H305N
c.913C>A
1 paper
NM_000395.3
p.H305D
c.913C>G
1 paper
NM_000395.3
p.H304_H305del2
c.910_914del6
1 paper
NM_000395.3
p.L293M
c.877C>A
1 paper
NM_000395.3
p.C289F
c.866G>T
1 paper
NM_000395.3
p.K279M
c.836A>T
3 papers
NM_000395.3
p.S271L
c.812C>T
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