Varaico: Literature-Extracted Genetic Variants

Gene:MRPL47
Variant:p.K220K

MRPL47

20 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-L47aa 64–149UCSCMitochondrial 39-S ribosomal protein L47 (MRP-L47)

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L47

HGNC Alias Symbols

CGI-204; NCM1; uL29m

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020409.3
p.K220K
c.660A>G
Surrounding Variants
1 paper
NM_020409.3
p.R216*
c.646C>T
1 paper
NM_020409.3
p.L226*
c.677T>G
1 paper
NM_020409.3
p.L226*
c.677T>A
1 paper
NM_020409.3
p.E227K
c.679G>A
2 papers
NM_020409.3
p.R213H
c.638G>A
1 paper
NM_020409.3
p.L234I
c.700C>A
1 paper
NM_020409.3
p.K237fs
c.709_710fs
1 paper
NM_020409.3
p.K237delFs
c.709_710delTT
1 paper
NM_020409.3
p.F208S
c.623T>C
1 paper
NM_020409.3
p.D206N
c.616G>A
1 paper
NM_020409.3
p.P187S
c.559C>T
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