Varaico: Literature-Extracted Genetic Variants

Gene:BMS1
Variant:p.S552P

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
4 papers
NM_014753.4
p.S552P
c.1654T>C
Surrounding Variants
1 paper
NM_014753.4
p.R560C
c.1678C>T
1 paper
NM_014753.4
p.R560H
c.1679G>A
1 paper
NM_014753.4
p.G536G
c.1608C>T
1 paper
NM_014753.4
p.E534K
c.1600G>A
1 paper
NM_014753.4
p.E526*
c.1576G>T
1 paper
NM_014753.4
p.E520K
c.1558G>A
1 paper
NM_014753.4
p.E519K
c.1555G>A
1 paper
NM_014753.4
p.E517K
c.1549G>A
1 paper
NM_014753.4
p.E517delFs
c.1549delG
1 paper
NM_014753.4
p.E591K
c.1771G>A
1 paper
NM_014753.4
p.E509D
c.1527G>C
1 paper
NM_014753.4
p.E509D
c.1527G>T
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