Varaico: Literature-Extracted Genetic Variants

Gene:MRPL40
Variant:p.F171S

MRPL40

16 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

MRP-L28aa 45–199UCSCMitochondrial ribosomal protein L28

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L40

HGNC Previous Symbol

NLVCF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003776.4
p.F171S
c.512T>C
Surrounding Variants
1 paper
NM_003776.4
p.A161V
c.482C>T
1 paper
NM_003776.4
p.F204L
c.610T>C
1 paper
NM_003776.4
p.F204L
c.612T>A
1 paper
NM_003776.4
p.F204L
c.612T>G
2 papers
NM_003776.4
p.R129H
c.386G>A
1 paper
NM_003776.4
p.L123S
c.368T>C
1 paper
NM_003776.4
p.K119R
c.356A>G
1 paper
NM_003776.4
p.A78ins1
c.232_233insCTA
1 paper
NM_003776.4
p.L68S
c.203T>C
1 paper
NM_003776.4
p.L37del1
c.109_110delTTG
1 paper
NM_003776.4
p.S35*
c.104C>A
1 paper
NM_003776.4
p.S35*
c.104C>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."