Varaico: Literature-Extracted Genetic Variants

Gene:MRPS14
Variant:p.D72G

MRPS14

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_S14aa 74–127UCSCRibosomal protein S14p/S29e

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S14

HGNC Alias Symbols

HSMRPS14; uS14m

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022100.3
p.D72G
c.215A>G
Surrounding Variants
1 paper
NM_022100.3
p.R98H
c.293G>A
4 papers
NM_022100.3
p.R108C
c.322C>T
1 paper
NM_022100.3
p.Q119R
c.356A>G
1 paper
NM_022100.3
p.L57_Q68del0
c.169_204del36
1 paper
NM_022100.3
p.N60D
c.178A>G
2 papers
NM_022100.3
p.R41*
c.121C>T
1 paper
NM_022100.3
p.V38L
c.112G>T
1 paper
NM_022100.3
p.V38L
c.112G>C
1 paper
NM_022100.3
p.D37N
c.109G>A
1 paper
NM_022100.3
p.S19_G23del0
c.57_68del12
1 paper
NM_022100.3
p.Q15*
c.43C>T
1 paper
NM_022100.3
p.M5T
c.14T>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."