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

2 papers

NM_000969.5

p.N45_T46del2

c.133_137del6

Surrounding Variants

4 papers

NM_000969.5

p.Y44*

c.132C>A

4 papers

NM_000969.5

p.Y44*

c.132C>G

2 papers

NM_000969.5

p.T46_P47del2

c.136_140del6

2 papers

NM_000969.5

p.N45_T46delFs

c.134_138del5

1 paper

NM_000969.5

p.T46_P47insA

c.136_140ins3

1 paper

NM_000969.5

p.Y44_K48delFs

c.130_142del13

1 paper

NM_000969.5

p.T46K

c.137C>A

1 paper

NM_000969.5

p.T46I

c.137C>T

1 paper

NM_000969.5

p.N42fs

c.124_125fs

1 paper

NM_000969.5

p.K41K

c.123A>G

1 paper

NM_000969.5

p.K48T

c.143A>C

2 papers

NM_000969.5

p.Y49insFs

c.145dupT