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.Q39_D40insT

c.115_119ins3

Surrounding Variants

1 paper

NM_000969.5

p.Q39*

c.115C>T

1 paper

NM_000969.5

p.I38insFs

c.113_114insA

1 paper

NM_000969.5

p.D40G

c.119A>G

1 paper

NM_000969.5

p.N42delFs

c.125delA

1 paper

NM_000969.5

p.K41K

c.123A>G

1 paper

NM_000969.5

p.N42fs

c.124_125fs

1 paper

NM_000969.5

p.R35R

c.105C>T

1 paper

NM_000969.5

p.R35fs

c.103_104fs

1 paper

NM_000969.5

p.Y44_K48delFs

c.130_142del13

1 paper

NM_000969.5

p.K34Q

c.100A>C

1 paper

NM_000969.5

p.K34E

c.100A>G

2 papers

NM_000969.5

p.N45_T46delFs

c.134_138del5