Varaico: Literature-Extracted Genetic Variants

Gene:BMS1
Variant:p.W983C

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.W983C
c.2949G>C
Surrounding Variants
1 paper
NM_014753.4
p.W983C
c.2949G>T
1 paper
NM_014753.4
p.A980T
c.2938G>A
1 paper
NM_014753.4
p.R939G
c.2815C>G
1 paper
NM_014753.4
p.L936P
c.2807T>C
1 paper
NM_014753.4
p.K934E
c.2800A>G
3 papers
NM_014753.4
p.R930H
c.2789G>A
1 paper
NM_014753.4
p.R930C
c.2788C>T
1 paper
NM_014753.4
p.S998fs
c.2992_2993fs
1 paper
NM_014753.4
p.S915fs
c.2743_2744fs
1 paper
NM_014753.4
p.S1000N
c.2999G>A
1 paper
NM_014753.4
p.H904Y
c.2710C>T
4 papers
NM_014753.4
p.F901I
c.2701T>A
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