Varaico: Literature-Extracted Genetic Variants

MRPL12

28 papers

RefSeq Summary

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit a...

Pfam Domains

Ribosomal_L12_Naa 63–116UCSCRibosomal protein L7/L12 dimerisation domain

Ribosomal_L12aa 130–198UCSCRibosomal protein L7/L12 C-terminal domain

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L12

HGNC Previous Symbol

RPML12

Papers

RefSeq ID

Protein change

DNA change

1–12 of 25 variants

8 papers

NM_002949.4

p.A181V

c.542C>T

1 paper

NM_002949.4

p.C13W

c.39C>G

1 paper

NM_002949.4

p.G15E

c.44G>A

1 paper

NM_002949.4

p.R25G

c.73A>G

1 paper

NM_002949.4

p.Q27*

c.79C>T

1 paper

NM_002949.4

p.A33A

c.99C>T

1 paper

NM_002949.4

p.H36H

c.108T>C

1 paper

NM_002949.4

p.C45R

c.133T>C

1 paper

NM_002949.4

p.P62H

c.185C>A

1 paper

NM_002949.4

p.K88R

c.263A>G

1 paper

NM_002949.4

p.V98V

c.294G>A

1 paper

NM_002949.4

p.E115_A116Splc

c.346-137G>A