Varaico: Literature-Extracted Genetic Variants

Gene:CSF2RB
Variant:p.S625F

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.S625F
c.1874C>T
Surrounding Variants
1 paper
NM_000395.3
p.S617N
c.1850G>A
1 paper
NM_000395.3
p.G635W
c.1903G>T
1 paper
NM_000395.3
p.L606delins
c.1817_1818delinsAT
1 paper
NM_000395.3
p.A645V
c.1934C>T
3 papers
NM_000395.3
p.G647V
c.1940G>T
4 papers
NM_000395.3
p.P603T
c.1807C>A
1 paper
NM_000395.3
p.Q650*
c.1948C>T
1 paper
NM_000395.3
p.R600H
c.1799G>A
3 papers
NM_000395.3
p.V652M
c.1954G>A
1 paper
NM_000395.3
p.P596Q
c.1787C>A
1 paper
NM_000395.3
p.V654V
c.1962G>A
1 paper
NM_000395.3
p.R657W
c.1969A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."