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.R284Q

c.851G>A

Surrounding Variants

1 paper

NM_031902.5

p.K272R

c.815A>G

1 paper

NM_031902.5

p.K272E

c.814A>G

1 paper

NM_031902.5

p.A271A

c.813A>C

1 paper

NM_031902.5

p.I290I

c.870A>C

1 paper

NM_031902.5

p.I303M

c.909C>G

1 paper

NM_031902.5

p.R264R

c.792G>T

1 paper

NM_031902.5

p.R242H

c.725G>A

1 paper

NM_031902.5

p.I241T

c.722T>C

1 paper

NM_031902.5

p.T220I

c.659C>T

1 paper

NM_031902.5

p.E216D

c.648G>T

1 paper

NM_031902.5

p.E216*

c.646G>T

1 paper

NM_031902.5

p.G200D

c.599G>A