Varaico: Literature-Extracted Genetic Variants

MRPL11

28 papers

RefSeq Summary

This nuclear gene encodes a 39S subunit component of the mitochondial ribosome. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene are found on chromosomes 5 and 1...

Pfam Domains

Ribosomal_L11_Naa 20–78UCSCRibosomal protein L11, N-terminal domain

Ribosomal_L11aa 83–155UCSCRibosomal protein L11, RNA binding domain

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L11

HGNC Alias Symbol

uL11m

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_016050.5

p.R142C

c.424C>T

Surrounding Variants

1 paper

NM_016050.5

p.S139insFs

c.415_416insC

1 paper

NM_016050.5

p.R149S

c.445C>A

1 paper

NM_016050.5

p.A121V

c.362C>T

2 papers

NM_016050.5

p.H116Y

c.346C>T

1 paper

NM_016050.5

p.V108insFs

c.322_323insC

2 papers

NM_016050.5

p.G105Splc

c.314-1G>T

1 paper

NM_016050.5

p.Q103insFs

c.307_308insA

1 paper

NM_016050.5

p.G100_A101insFs

c.300_301insT

1 paper

NM_016050.5

p.G100insFs

c.299_300insT

1 paper

NM_016050.5

p.K99delFs

c.296delT

1 paper

NM_016050.5

p.A95V

c.284C>T

2 papers

NM_016050.5

p.L91P

c.272T>C