Varaico: Literature-Extracted Genetic Variants

Gene:MRPL16
Variant:p.I147T

MRPL16

28 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_L16aa 58–190UCSCRibosomal protein L16p/L10e

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L16

HGNC Alias Symbols

FLJ20484; PNAS-111; uL16m

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017840.4
p.I147T
c.440T>C
Surrounding Variants
1 paper
NM_017840.4
p.E162Q
c.484G>C
1 paper
NM_017840.4
p.V124I
c.370G>A
1 paper
NM_017840.4
p.R106H
c.317G>A
1 paper
NM_017840.4
p.G193R
c.577G>C
1 paper
NM_017840.4
p.G193R
c.577G>A
4 papers
NM_017840.4
p.R199Q
c.596G>A
1 paper
NM_017840.4
p.R199delFs
c.595_596delCG
1 paper
NM_017840.4
p.N209fs
c.625_626fs
1 paper
NM_017840.4
p.N209_N211delFs
c.626_632del7
1 paper
NM_017840.4
p.P212S
c.634C>T
2 papers
NM_017840.4
p.R227Q
c.680G>A
1 paper
NM_017840.4
p.G243R
c.727G>C
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