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.H88R

c.263A>G

Surrounding Variants

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

1 paper

NM_007208.4

p.D50Y

c.148G>T

1 paper

NM_007208.4

p.G105D

c.314G>A

1 paper

NM_007208.4

p.Q123*

c.367C>T

1 paper

NM_007208.4

p.L22L

c.64C>T

3 papers

NM_007208.4

p.R17delFs

c.49delG

3 papers

NM_007208.4

p.R17fs

c.49_50fs

1 paper

NM_007208.4

p.Q13H

c.39G>T

1 paper

NM_007208.4

p.Q13H

c.39G>C

1 paper

NM_007208.4

p.V10I

c.28G>A