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

1–12 of 44 variants

10 papers

NM_007208.4

p.P317R

c.950C>G

6 papers

NM_007208.4

p.S75N

c.224G>A

3 papers

NM_007208.4

p.R17fs

c.49_50fs

3 papers

NM_007208.4

p.R17delFs

c.49delG

3 papers

NM_007208.4

p.G311S

c.931G>A

2 papers

NM_007208.4

p.T191P

c.571A>C

2 papers

NM_007208.4

p.R199C

c.595C>T

2 papers

NM_007208.4

p.M261T

c.782T>C

2 papers

NM_007208.4

p.S288P

c.862T>C

1 paper

NM_007208.4

p.M1L

c.1A>C

1 paper

NM_007208.4

p.V10I

c.28G>A

1 paper

NM_007208.4

p.Q13H

c.39G>T