Varaico: Literature-Extracted Genetic Variants

Gene:RPL5
Variant:p.E82K

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
9 papers
NM_000969.5
p.E82K
c.244G>A
Surrounding Variants
1 paper
NM_000969.5
p.E82insFs
c.244_245insAA
1 paper
NM_000969.5
p.E82fs
c.244_245fs
1 paper
NM_000969.5
p.E82*
c.244G>T
1 paper
NM_000969.5
p.E82delFs
c.246delA
1 paper
NM_000969.5
p.E82D
c.246A>C
1 paper
NM_000969.5
p.E82D
c.246A>T
1 paper
NM_000969.5
p.L83_V90delFs
c.249_268del20
1 paper
NM_000969.5
p.A80insFs
c.239_240insG
1 paper
NM_000969.5
p.P84insFs
c.250_251insA
1 paper
NM_000969.5
p.P84fs
c.250_251fs
1 paper
NM_000969.5
p.P84_V90delFs
c.251_270del20
1 paper
NM_000969.5
p.P84insFs
c.251_252insA
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