Varaico: Literature-Extracted Genetic Variants

Gene:BMS1

BMS1

113 papers

RefSeq Summary

This gene likely encodes a ribosome assembly protein. A similar protein in yeast functions in 35S-rRNA processing, which includes a series of cleavage steps critical for formation of 40S ribosomes. Re...

Pfam Domains

AARP2CNaa 243–316UCSCAARP2CN (NUC121) domain
RIBIOP_Caa 813–1106UCSC40S ribosome biogenesis protein Tsr1 and BMS1 C-terminal

Gene Aliases

HGNC Name

BMS1 ribosome biogenesis factor

HGNC Previous Symbol

BMS1L

Papers
RefSeq ID
Protein change
DNA change
1–12 of 130 variants
4 papers
NM_014753.4
p.S552P
c.1654T>C
4 papers
NM_014753.4
p.F901I
c.2701T>A
3 papers
NM_014753.4
p.R717C
c.2149C>T
3 papers
NM_014753.4
p.R930H
c.2789G>A
2 papers
NM_014753.4
p.K294delFs
c.880delA
2 papers
NM_014753.4
p.K294fs
c.880_881fs
2 papers
NM_014753.4
p.T393M
c.1178C>T
2 papers
NM_014753.4
p.K652R
c.1955A>G
2 papers
NM_014753.4
p.V791M
c.2371G>A
2 papers
NM_014753.4
p.Q858E
c.2572C>G
2 papers
NM_014753.4
p.A864T
c.2590G>A
2 papers
NM_014753.4
p.E1052D
c.3156A>C
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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."