Varaico: Literature-Extracted Genetic Variants

Gene:RPL5
Variant:p.N57fs

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
4 papers
NM_000969.5
p.N57fs
c.169_170fs
Surrounding Variants
2 papers
NM_000969.5
p.N57fs
c.169_170fs
1 paper
NM_000969.5
p.N57D
c.169A>G
1 paper
NM_000969.5
p.R58insFs
c.172_173insA
14 papers
NM_000969.5
p.R58_D59delFs
c.174_175delAG
3 papers
NM_000969.5
p.R58del1
c.172_173delAGA
1 paper
NM_000969.5
p.R58_D59del2
c.172_176del6
1 paper
NM_000969.5
p.R58fs
c.172_173fs
1 paper
NM_000969.5
p.R58G
c.172A>G
1 paper
NM_000969.5
p.T56S
c.166A>T
2 papers
NM_000969.5
p.R58delFs
c.173delG
2 papers
NM_000969.5
p.R58K
c.173G>A
13 papers
NM_000969.5
p.T56_N57delFs
c.166_169del4
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