Varaico: Literature-Extracted Genetic Variants

MRPL3

65 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_L3aa 1–119UCSCRibosomal protein L3

Ribosomal_L3aa 113–280UCSCRibosomal protein L3

Ribosomal_L3aa 277–340UCSCRibosomal protein L3

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L3

HGNC Previous Symbol

RPML3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007208.4

p.K298_V299Splc

c.895-2A>G

Surrounding Variants

3 papers

NM_007208.4

p.G311S

c.931G>A

10 papers

NM_007208.4

p.P317R

c.950C>G

1 paper

NM_007208.4

p.A342V

c.1025C>T

1 paper

NM_007208.4

p.T346S

c.1036A>T

1 paper

NM_007208.4

p.S344_I345insFs

c.1032_1035dup4

2 papers

NM_007208.4

p.S288P

c.862T>C

1 paper

NM_007208.4

p.K272_V273Splc

c.816+12A>C

1 paper

NM_007208.4

p.K272E

c.814A>G

2 papers

NM_007208.4

p.M261T

c.782T>C

1 paper

NM_007208.4

p.G259R

c.775G>C

1 paper

NM_007208.4

p.G259R

c.775G>A

1 paper

NM_007208.4

p.R250R

c.750A>G