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

1–12 of 30 variants

9 papers

NM_031420.4

p.E210A

c.629A>C

7 papers

NM_031420.4

p.I213V

c.637A>G

2 papers

NM_031420.4

p.N179D

c.535A>G

1 paper

NM_031420.4

p.A8T

c.22G>A

1 paper

NM_031420.4

p.V26A

c.77T>C

1 paper

NM_031420.4

p.D40H

c.118G>C

1 paper

NM_031420.4

p.L47F

c.139C>T

1 paper

NM_031420.4

p.R51W

c.151C>T

1 paper

NM_031420.4

p.R51Q

c.152G>A

1 paper

NM_031420.4

p.G66E

c.197G>A

1 paper

NM_031420.4

p.E67G

c.200A>G

1 paper

NM_031420.4

p.E67fs

c.199_200fs