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

2 papers

NM_007208.4

p.T191P

c.571A>C

Surrounding Variants

2 papers

NM_007208.4

p.R199C

c.595C>T

1 paper

NM_007208.4

p.R199H

c.596G>A

1 paper

NM_007208.4

p.N184D

c.550A>G

1 paper

NM_007208.4

p.T175_V176delFs

c.523_526del4

1 paper

NM_007208.4

p.G169V

c.506G>T

1 paper

NM_007208.4

p.Y165D

c.493T>G

1 paper

NM_007208.4

p.I161delFs

c.481delT