Varaico: Literature-Extracted Genetic Variants

MRPS5

42 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_uS5m_Naa 88–207UCSCSmall ribosomal subunit protein uS5m, N-terminal

Ribosomal_S5aa 218–283UCSCRibosomal protein S5, N-terminal domain

Ribosomal_S5_Caa 296–366UCSCRibosomal protein S5, C-terminal domain

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S5

HGNC Alias Symbols

MRP-S5; S5mt; uS5m

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_031902.5

p.G138S

c.412G>A

Surrounding Variants

2 papers

NM_031902.5

p.Y137C

c.410A>G

1 paper

NM_031902.5

p.R181L

c.542G>T

1 paper

NM_031902.5

p.R181Q

c.542G>A

1 paper

NM_031902.5

p.K188R

c.563A>G

1 paper

NM_031902.5

p.W198*

c.593G>A

1 paper

NM_031902.5

p.W198*

c.594G>A

1 paper

NM_031902.5

p.G199fs

c.595_596fs

1 paper

NM_031902.5

p.G200D

c.599G>A

1 paper

NM_031902.5

p.R117T

c.350G>C

1 paper

NM_031902.5

p.L103V

c.307T>G

1 paper

NM_031902.5

p.E216*

c.646G>T

1 paper

NM_031902.5

p.E216D

c.648G>T