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

2 papers

NM_031902.5

p.A363T

c.1087G>A

Surrounding Variants

1 paper

NM_031902.5

p.S386P

c.1156T>C

1 paper

NM_031902.5

p.S386F

c.1157C>T

1 paper

NM_031902.5

p.G352W

c.1054G>T

1 paper

NM_031902.5

p.R325L

c.974G>T

1 paper

NM_031902.5

p.L314L

c.942C>T

1 paper

NM_031902.5

p.G313R

c.937G>C

1 paper

NM_031902.5

p.Y312C

c.935A>G