Varaico: Literature-Extracted Genetic Variants

Gene:MRPL28
Variant:p.D160E

MRPL28

255 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_L28aa 76–138UCSCRibosomal L28 family

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L28

HGNC Previous Symbol

MAAT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006428.5
p.D160E
c.480C>A
Surrounding Variants
2 papers
NM_006428.5
p.D160E
c.480C>G
1 paper
NM_006428.5
p.L161L
c.481C>T
1 paper
NM_006428.5
p.R163Q
c.488G>A
1 paper
NM_006428.5
p.L161_R163delFs
c.482_488del7
1 paper
NM_006428.5
p.R168delFs
c.503delC
1 paper
NM_006428.5
p.L169L
c.507T>C
2 papers
NM_006428.5
p.A170V
c.509C>T
1 paper
NM_006428.5
p.A170D
c.509C>A
2 papers
NM_006428.5
p.R171W
c.511C>T
1 paper
NM_006428.5
p.R171Q
c.512G>A
1 paper
NM_006428.5
p.P149S
c.445C>T
1 paper
NM_006428.5
p.D180D
c.540C>T
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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."