Varaico: Literature-Extracted Genetic Variants

Gene:BMS1
Variant:p.K652R

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
2 papers
NM_014753.4
p.K652R
c.1955A>G
Surrounding Variants
1 paper
NM_014753.4
p.D640N
c.1918G>A
1 paper
NM_014753.4
p.S625_G626Fs
c.1874_1876delinsCFs
1 paper
NM_014753.4
p.K619E
c.1855A>G
1 paper
NM_014753.4
p.E591K
c.1771G>A
1 paper
NM_014753.4
p.S672F
c.2015C>T
1 paper
NM_014753.4
p.A678V
c.2033C>T
1 paper
NM_014753.4
p.R560H
c.1679G>A
1 paper
NM_014753.4
p.R560C
c.1678C>T
4 papers
NM_014753.4
p.S552P
c.1654T>C
1 paper
NM_014753.4
p.R690Q
c.2069G>A
1 paper
NM_014753.4
p.Y694C
c.2081A>G
1 paper
NM_014753.4
p.G536G
c.1608C>T
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