Varaico: Literature-Extracted Genetic Variants

RPL19

132 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 4 RNA species and approximately 80 structural...

Pfam Domains

Ribosomal_L19eaa 3–55UCSCRibosomal protein L19e, N-terminal domain

Ribosomal_L19e_Caa 56–146UCSCRibosomal protein L19e, C-terminal domain

Gene Aliases

HGNC Name

ribosomal protein L19

HGNC Alias Symbols

FLJ27452; MGC71997; DKFZp779D216; L19; eL19

Papers

RefSeq ID

Protein change

DNA change

1–12 of 89 variants

6 papers

NM_000981.4

p.E193D

c.579G>C

6 papers

NM_000981.4

p.E193D

c.579G>T

5 papers

NM_000981.4

p.A179V

c.536C>T

5 papers

NM_000981.4

p.I185F

c.553A>T

2 papers

NM_000981.4

p.K8K

c.24G>A

2 papers

NM_000981.4

p.D25A

c.74A>C

2 papers

NM_000981.4

p.Q40R

c.119A>G

2 papers

NM_000981.4

p.R60delFs

c.178_179delCG

2 papers

NM_000981.4

p.R60fs

c.178_179fs

2 papers

NM_000981.4

p.N66S

c.197A>G

2 papers

NM_000981.4

p.K113R

c.338A>G

2 papers

NM_000981.4

p.Q178_A179del2

c.532_536del6