Varaico: Literature-Extracted Genetic Variants

Gene:BMS1
Variant:p.S220delFs

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
Selected Variant
1 paper
NM_014753.4
p.S220delFs
c.658delT
Surrounding Variants
1 paper
NM_014753.4
p.M222V
c.664A>G
1 paper
NM_014753.4
p.A214V
c.641C>T
1 paper
NM_014753.4
p.R237H
c.710G>A
1 paper
NM_014753.4
p.L247I
c.739C>A
1 paper
NM_014753.4
p.L257L
c.771G>T
1 paper
NM_014753.4
p.R260Splc
c.780-113G>C
1 paper
NM_014753.4
p.T265insFs
c.794dupC
1 paper
NM_014753.4
p.D269H
c.805G>C
1 paper
NM_014753.4
p.R278L
c.833G>T
1 paper
NM_014753.4
p.G288G
c.864A>T
2 papers
NM_014753.4
p.K294delFs
c.880delA
2 papers
NM_014753.4
p.K294fs
c.880_881fs
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