Varaico: Literature-Extracted Genetic Variants

Gene:MRPL15
Variant:p.R64H

MRPL15

29 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_L27Aaa 95–175UCSCRibosomal proteins 50S-L15, 50S-L18e, 60S-L27A

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L15

HGNC Alias Symbols

RPML7; MRP-L7; HSPC145; L15mt; MRP-L15; uL15m

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014175.4
p.R64H
c.191G>A
Surrounding Variants
3 papers
NM_014175.4
p.R62W
c.184C>T
1 paper
NM_014175.4
p.F67delFs
c.201delT
1 paper
NM_014175.4
p.F67fs
c.199_200fs
1 paper
NM_014175.4
p.R57G
c.169A>G
1 paper
NM_014175.4
p.G50A
c.149G>C
1 paper
NM_014175.4
p.G82A
c.245G>C
1 paper
NM_014175.4
p.R43W
c.127C>T
1 paper
NM_014175.4
p.R100T
c.299G>C
1 paper
NM_014175.4
p.D135G
c.404A>G
1 paper
NM_014175.4
p.G32C
c.94G>T
1 paper
NM_014175.4
p.V22L
c.64G>C
1 paper
NM_014175.4
p.V22L
c.64G>T
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