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.C138delFs

c.413_414delAC

Surrounding Variants

1 paper

NM_007208.4

p.C138*

c.414T>A

1 paper

NM_007208.4

p.M142I

c.426G>T

1 paper

NM_007208.4

p.M142I

c.426G>C

1 paper

NM_007208.4

p.Y132F

c.395A>T

1 paper

NM_007208.4

p.Y132C

c.395A>G

1 paper

NM_007208.4

p.G148V

c.443G>T

1 paper

NM_007208.4

p.Q123*

c.367C>T

1 paper

NM_007208.4

p.G105D

c.314G>A

1 paper

NM_007208.4

p.H88R

c.263A>G

1 paper

NM_007208.4

p.P86R

c.257C>G

1 paper

NM_007208.4

p.L80P

c.239T>C

6 papers

NM_007208.4

p.S75N

c.224G>A