Varaico: Literature-Extracted Genetic Variants

Gene:BMS1
Variant:p.V791M

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.V791M
c.2371G>A
Surrounding Variants
1 paper
NM_014753.4
p.S796L
c.2387C>T
1 paper
NM_014753.4
p.N799D
c.2395A>G
1 paper
NM_014753.4
p.E778A
c.2333A>C
1 paper
NM_014753.4
p.P815P
c.2445C>T
1 paper
NM_014753.4
p.K822M
c.2465A>T
1 paper
NM_014753.4
p.E854D
c.2562A>C
1 paper
NM_014753.4
p.E854D
c.2562A>T
2 papers
NM_014753.4
p.Q858E
c.2572C>G
2 papers
NM_014753.4
p.A864T
c.2590G>A
1 paper
NM_014753.4
p.Y877H
c.2629T>C
1 paper
NM_014753.4
p.E878D
c.2634G>C
1 paper
NM_014753.4
p.E878D
c.2634G>T
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