Varaico: Literature-Extracted Genetic Variants

Gene:RPL5
Variant:p.Y30fs

RPL5

237 papers

RefSeq Summary

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structu...

Pfam Domains

Ribosomal_L5eaa 14–176UCSCRibosomal large subunit proteins 60S L5, and 50S L18
Ribosomal_L18_caa 236–289UCSCRibosomal L18 C-terminal region

Gene Aliases

HGNC Name

ribosomal protein L5

HGNC Alias Symbols

L5; PPP1R135; uL18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000969.5
p.Y30fs
c.88_89fs
Surrounding Variants
1 paper
NM_000969.5
p.Y31delFs
c.91delT
1 paper
NM_000969.5
p.D29delFs
c.87delT
1 paper
NM_000969.5
p.D29N
c.85G>A
1 paper
NM_000969.5
p.Y31fs
c.91_92fs
1 paper
NM_000969.5
p.Y31fs
c.91_92fs
1 paper
NM_000969.5
p.Y31F
c.92A>T
1 paper
NM_000969.5
p.T28_D29Fs
c.83_86delinsTGGFs
1 paper
NM_000969.5
p.T28delFs
c.83delC
1 paper
NM_000969.5
p.A32G
c.95C>G
1 paper
NM_000969.5
p.A32A
c.96T>A
1 paper
NM_000969.5
p.A32A
c.96T>G
1 paper
NM_000969.5
p.K27insFs
c.79_80insC
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