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.N136K

c.408C>A

Surrounding Variants

1 paper

NM_031420.4

p.N136K

c.408C>G

1 paper

NM_031420.4

p.N136D

c.406A>G

1 paper

NM_031420.4

p.E143D

c.429G>T

1 paper

NM_031420.4

p.E143D

c.429G>C

1 paper

NM_031420.4

p.L152V

c.454T>G

1 paper

NM_031420.4

p.K91Q

c.271A>C

1 paper

NM_031420.4

p.T86A

c.256A>G

1 paper

NM_031420.4

p.E67fs

c.199_200fs

1 paper

NM_031420.4

p.E67G

c.200A>G

1 paper

NM_031420.4

p.G66E

c.197G>A

2 papers

NM_031420.4

p.N179D

c.535A>G

1 paper

NM_031420.4

p.R51Q

c.152G>A