Varaico: Literature-Extracted Genetic Variants

MRPL9

40 papers

RefSeq Summary

This is a nuclear gene encoding a protein component of the 39S subunit of the mitochondrial ribosome. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found o...

Pfam Domains

bL9m_Naa 54–85UCSCLarge ribosomal subunit protein bL9m N-terminal domain

Ribosomal_L9_Naa 94–140UCSCRibosomal protein L9, N-terminal domain

Ribosomal_bL9m_Caa 153–204UCSCLarge ribosomal subunit protein bL9m C-terminal domain

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L9

HGNC Alias Symbol

bL9m

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_031420.4

p.N226D

c.676A>G

Surrounding Variants

1 paper

NM_031420.4

p.K242N

c.726G>T

1 paper

NM_031420.4

p.K242N

c.726G>C

1 paper

NM_031420.4

p.R247I

c.740G>T

1 paper

NM_031420.4

p.A253T

c.757G>A

1 paper

NM_031420.4

p.A256G

c.767C>G

1 paper

NM_031420.4

p.M260V

c.778A>G

1 paper

NM_031420.4

p.A261G

c.782C>G

7 papers

NM_031420.4

p.I213V

c.637A>G

9 papers

NM_031420.4

p.E210A

c.629A>C

1 paper

NM_031420.4

p.N196_L197Splc

c.589-4G>T

1 paper

NM_031420.4

p.R191H

c.572G>A

2 papers

NM_031420.4

p.N179D

c.535A>G