Varaico: Literature-Extracted Genetic Variants

Gene:MRPS18C
Variant:p.H71L

MRPS18C

12 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_S18aa 43–92UCSCRibosomal protein S18

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S18C

HGNC Alias Symbols

MRPS18-1; CGI-134; FLJ11146; FLJ22967; bS18m

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016067.4
p.H71L
c.212A>T
Surrounding Variants
1 paper
NM_016067.4
p.K59R
c.176A>G
1 paper
NM_016067.4
p.I91N
c.272T>A
1 paper
NM_016067.4
p.L50_P51Splc
c.150+1G>A
1 paper
NM_016067.4
p.A23D
c.68C>A
1 paper
NM_016067.4
p.A22D
c.65C>A
1 paper
NM_016067.4
p.H18Q
c.54C>A
1 paper
NM_016067.4
p.H18Q
c.54C>G
1 paper
NM_016067.4
p.Q104E
c.310C>G
1 paper
NM_016067.4
p.V135A
c.404T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."