Varaico: Literature-Extracted Genetic Variants

Gene:MRPL18
Variant:p.L3_R4delFs

MRPL18

22 papers

RefSeq Summary

This nuclear gene encodes a protein component of the larger 39S subunit of mitochondrial ribosome. This protein may also aid in the import of nuclear-encoded 5S rRNA into mitochondria. Alternative spl...

Pfam Domains

Ribosomal_L18paa 59–170UCSCRibosomal L18 of archaea, bacteria, mitoch. and chloroplast

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L18

HGNC Alias Symbols

HSPC071; uL18m

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_014161.5
p.L3_R4delFs
c.9_10delTC
Surrounding Variants
3 papers
NM_014161.5
p.R6Q
c.17G>A
3 papers
NM_014161.5
p.G9_L10del2
c.25_29del6
4 papers
NM_014161.5
p.L10del1
c.28_29delTTG
2 papers
NM_014161.5
p.L10W
c.29T>G
1 paper
NM_014161.5
p.P17S
c.49C>T
1 paper
NM_014161.5
p.G18Splc
c.52+84C>G
2 papers
NM_014161.5
p.S27_E29del3
c.79_86del9
1 paper
NM_014161.5
p.S60T
c.178T>A
1 paper
NM_014161.5
p.P73L
c.218C>T
1 paper
NM_014161.5
p.R75C
c.223C>T
1 paper
NM_014161.5
p.V94A
c.281T>C
1 paper
NM_014161.5
p.R108C
c.322C>T
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