Varaico: Literature-Extracted Genetic Variants

Gene:MRPL20
Variant:p.R99S

MRPL20

17 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_L20aa 11–116UCSCRibosomal protein L20

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L20

HGNC Alias Symbols

FLJ10024; bL20m

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017971.4
p.R99S
c.297G>T
Surrounding Variants
1 paper
NM_017971.4
p.R99S
c.297G>C
1 paper
NM_017971.4
p.C93_V101delFs
c.277_301del25
1 paper
NM_017971.4
p.L102_A103insA
c.304_308ins3
1 paper
NM_017971.4
p.K114R
c.341A>G
1 paper
NM_017971.4
p.S143_R144delFs
c.429_430delTG
1 paper
NM_017971.4
p.R144fs
c.430_431fs
1 paper
NM_017971.4
p.K92_C93Splc
c.276+4T>A
1 paper
NM_017971.4
p.V91D
c.272T>A
1 paper
NM_017971.4
p.N89T
c.266A>C
1 paper
NM_017971.4
p.L86F
c.256C>T
2 papers
NM_017971.4
p.A85V
c.254C>T
1 paper
NM_017971.4
p.T66T
c.198C>G
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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."