Varaico: Literature-Extracted Genetic Variants

Gene:DAP3
Variant:p.Q39R

DAP3

60 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

DAP3aa 99–394UCSCMitochondrial ribosomal death-associated protein 3

Gene Aliases

HGNC Name

death associated protein 3

HGNC Alias Symbols

MRPS29; DAP-3; MRP-S29; bMRP-10; MGC126058; MGC126059; DKFZp686G12159; mS29

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004632.4
p.Q39R
c.116A>G
Surrounding Variants
2 papers
NM_004632.4
p.A34insFs
c.100dupG
1 paper
NM_004632.4
p.G82A
c.245G>C
1 paper
NM_004632.4
p.H14insFs
c.41dupA
1 paper
NM_004632.4
p.I10V
c.28A>G
1 paper
NM_004632.4
p.L9P
c.26T>C
4 papers
NM_004632.4
p.G5E
c.14G>A
1 paper
NM_004632.4
p.V91E
c.272T>A
1 paper
NM_004632.4
p.A97D
c.290C>A
1 paper
NM_004632.4
p.L99V
c.295C>G
2 papers
NM_004632.4
p.K113_N114delFs
c.339_340delAA
1 paper
NM_004632.4
p.E129Q
c.385G>C
1 paper
NM_004632.4
p.E129V
c.386A>T
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