Varaico: Literature-Extracted Genetic Variants

Gene:BMS1
Variant:p.K934E

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.K934E
c.2800A>G
Surrounding Variants
1 paper
NM_014753.4
p.L936P
c.2807T>C
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.R939G
c.2815C>G
1 paper
NM_014753.4
p.A980T
c.2938G>A
1 paper
NM_014753.4
p.S915fs
c.2743_2744fs
1 paper
NM_014753.4
p.W983C
c.2949G>C
1 paper
NM_014753.4
p.W983C
c.2949G>T
1 paper
NM_014753.4
p.H904Y
c.2710C>T
4 papers
NM_014753.4
p.F901I
c.2701T>A
1 paper
NM_014753.4
p.V893F
c.2677G>T
1 paper
NM_014753.4
p.I888V
c.2662A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."