Varaico: Literature-Extracted Genetic Variants

Gene:DAP3
Variant:p.L380R

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
2 papers
NM_004632.4
p.L380R
c.1139T>G
Surrounding Variants
1 paper
NM_004632.4
p.F382L
c.1144T>C
1 paper
NM_004632.4
p.F382L
c.1146C>A
1 paper
NM_004632.4
p.F382L
c.1146C>G
1 paper
NM_004632.4
p.A386T
c.1156G>A
3 papers
NM_004632.4
p.E375_G376del1
c.1124_1126delAAG
1 paper
NM_004632.4
p.P372S
c.1114C>T
2 papers
NM_004632.4
p.E392K
c.1174G>A
2 papers
NM_004632.4
p.C395Y
c.1184G>A
1 paper
NM_004632.4
p.A371P
c.1111G>C
1 paper
NM_004632.4
p.Q367P
c.1100A>C
1 paper
NM_004632.4
p.Q358H
c.1074G>C
1 paper
NM_004632.4
p.Q358H
c.1074G>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."