Varaico: Literature-Extracted Genetic Variants

Gene:MRPL32
Variant:p.R139Q

MRPL32

19 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_L32paa 79–136UCSCRibosomal L32p protein family

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L32

HGNC Alias Symbols

HSPC283; L32mt; MRP-L32; bMRP-59b; bL32m

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031903.3
p.R139Q
c.416G>A
Surrounding Variants
1 paper
NM_031903.3
p.I141V
c.421A>G
1 paper
NM_031903.3
p.F149del1
c.445_446delTTT
2 papers
NM_031903.3
p.V157V
c.471G>A
1 paper
NM_031903.3
p.H115R
c.344A>G
1 paper
NM_031903.3
p.D108E
c.324C>A
2 papers
NM_031903.3
p.R177*
c.529C>T
1 paper
NM_031903.3
p.R181L
c.542G>T
1 paper
NM_031903.3
p.P58L
c.173C>T
1 paper
NM_031903.3
p.G44*
c.130G>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."