Varaico: Literature-Extracted Genetic Variants

Gene:MRPL19
Variant:p.P216T

MRPL19

39 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_L19aa 93–198UCSCRibosomal protein L19

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L19

HGNC Alias Symbols

MRP-L15; RPML15; KIAA0104; RLX1; bL19m

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014763.4
p.P216T
c.646C>A
Surrounding Variants
1 paper
NM_014763.4
p.V202V
c.606G>A
1 paper
NM_014763.4
p.S198I
c.593G>T
1 paper
NM_014763.4
p.R191Q
c.572G>A
1 paper
NM_014763.4
p.R170Q
c.509G>A
1 paper
NM_014763.4
p.E219_L220Splc
c.658-9C>A
1 paper
NM_014763.4
p.E219_L220Splc
c.658-1G>C
1 paper
NM_014763.4
p.A280A
c.840T>A
1 paper
NM_014763.4
p.W283R
c.847T>A
1 paper
NM_014763.4
p.W283R
c.847T>C
1 paper
NM_014763.4
p.R291M
c.872G>T
1 paper
NM_014763.4
p.Q132P
c.395A>C
1 paper
NM_014763.4
p.R118C
c.352C>T
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