Varaico: Literature-Extracted Genetic Variants

Gene:BMS1
Variant:p.E1052D

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.E1052D
c.3156A>C
Surrounding Variants
2 papers
NM_014753.4
p.E1052D
c.3156A>T
1 paper
NM_014753.4
p.K1055R
c.3164A>G
1 paper
NM_014753.4
p.G1058D
c.3173G>A
1 paper
NM_014753.4
p.R1076*
c.3226C>T
1 paper
NM_014753.4
p.R1083W
c.3247A>T
1 paper
NM_014753.4
p.P1107_N1111delFs
c.3321_3331del11
1 paper
NM_014753.4
p.V1113_K1118delFs
c.3338_3354del17
2 papers
NM_014753.4
p.V1141I
c.3421G>A
1 paper
NM_014753.4
p.A1145delFs
c.3434delC
1 paper
NM_014753.4
p.L1150delFs
c.3448_3449delCT
1 paper
NM_014753.4
p.S1000N
c.2999G>A
1 paper
NM_014753.4
p.S998fs
c.2992_2993fs
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