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

1–12 of 34 variants

2 papers

NM_016050.5

p.L91P

c.272T>C

2 papers

NM_016050.5

p.G105Splc

c.314-1G>T

2 papers

NM_016050.5

p.H116Y

c.346C>T

2 papers

NM_016050.5

p.R142C

c.424C>T

2 papers

NM_016050.5

p.D182N

c.544G>A

1 paper

NM_016050.5

p.S2L

c.5C>T

1 paper

NM_016050.5

p.L11P

c.32T>C

1 paper

NM_016050.5

p.L11L

c.33C>T

1 paper

NM_016050.5

p.P14P

c.42C>T

1 paper

NM_016050.5

p.V16V

c.48C>A

1 paper

NM_016050.5

p.R21W

c.61C>T

1 paper

NM_016050.5

p.I23I

c.69C>T