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.E193K

c.577G>A

Surrounding Variants

2 papers

NM_000969.5

p.V194I

c.580G>A

1 paper

NM_000969.5

p.N191_A192insFs

c.573_574insG

1 paper

NM_000969.5

p.E189D

c.567A>C

1 paper

NM_000969.5

p.E189D

c.567A>T

1 paper

NM_000969.5

p.R196Q

c.587G>A

1 paper

NM_000969.5

p.R196L

c.587G>T

1 paper

NM_000969.5

p.K197_H198insA

c.589_593ins3

1 paper

NM_000969.5

p.E189fs

c.565_566fs

2 papers

NM_000969.5

p.E189delFs

c.565delG

1 paper

NM_000969.5

p.S187N

c.560G>A

1 paper

NM_000969.5

p.S187C

c.559A>T

1 paper

NM_000969.5

p.I199S

c.596T>G