Varaico: Literature-Extracted Genetic Variants

MRPL2

26 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_L2_Naa 73–165UCSCRibosomal Proteins L2, RNA binding N-terminal domain

Ribosomal_L2_Caa 177–295UCSCRibosomal Proteins L2, C-terminal domain

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L2

HGNC Alias Symbols

MRP-L14; RPML14; CGI-22; uL2m

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015950.5

p.R149C

c.445C>T

Surrounding Variants

1 paper

NM_015950.5

p.A140V

c.419C>T

1 paper

NM_015950.5

p.I139R

c.416T>G

1 paper

NM_015950.5

p.S136P

c.406T>C

1 paper

NM_015950.5

p.G179R

c.535G>C

1 paper

NM_015950.5

p.G179R

c.535G>A

2 papers

NM_015950.5

p.R113W

c.337C>T

1 paper

NM_015950.5

p.G203D

c.608G>A

1 paper

NM_015950.5

p.R208Q

c.623G>A

1 paper

NM_015950.5

p.G98R

c.292G>C

1 paper

NM_015950.5

p.G98R

c.292G>A

1 paper

NM_015950.5

p.I91N

c.272T>A

1 paper

NM_015950.5

p.T212M

c.635C>T