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.C10fs

c.28_29fs

Surrounding Variants

1 paper

NM_031902.5

p.C10delFs

c.28delA

1 paper

NM_031902.5

p.N46S

c.137A>G

1 paper

NM_031902.5

p.H58R

c.173A>G

2 papers

NM_031902.5

p.P59L

c.176C>T

1 paper

NM_031902.5

p.Y60*

c.180C>G

1 paper

NM_031902.5

p.Y60*

c.180C>A

1 paper

NM_031902.5

p.I73S

c.218T>G