Varaico: Literature-Extracted Genetic Variants

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.A78P

c.232G>C

Surrounding Variants

1 paper

NM_000969.5

p.A78_P84del0

c.233_250del18

1 paper

NM_000969.5

p.Y79insFs

c.235_236insT

4 papers

NM_000969.5

p.A77T

c.229G>A

1 paper

NM_000969.5

p.C76*

c.228C>A

1 paper

NM_000969.5

p.C76Y

c.227G>A

1 paper

NM_000969.5

p.A80insFs

c.238_239insG

1 paper

NM_000969.5

p.A80insFs

c.239_240insG

1 paper

NM_000969.5

p.I74insFs

c.222dupA

9 papers

NM_000969.5

p.E82K

c.244G>A

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