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

Selected Variant

1 paper

NM_002949.4

p.K138R

c.413A>G

Surrounding Variants

1 paper

NM_002949.4

p.K138Q

c.412A>C

1 paper

NM_002949.4

p.K142Q

c.424A>C

1 paper

NM_002949.4

p.K142R

c.425A>G

1 paper

NM_002949.4

p.K144Q

c.430A>C

1 paper

NM_002949.4

p.K144R

c.431A>G

1 paper

NM_002949.4

p.K125*

c.373A>T

1 paper

NM_002949.4

p.K163Q

c.487A>C

1 paper

NM_002949.4

p.K163R

c.488A>G

1 paper

NM_002949.4

p.K173Q

c.517A>C

1 paper

NM_002949.4

p.K173R

c.518A>G

1 paper

NM_002949.4

p.E115_A116Splc

c.346-137G>A

8 papers

NM_002949.4

p.A181V

c.542C>T