Varaico: Literature-Extracted Genetic Variants

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.Q326H

c.978G>C

Surrounding Variants

1 paper

NM_004632.4

p.Q326H

c.978G>T

1 paper

NM_004632.4

p.R320W

c.958C>T

1 paper

NM_004632.4

p.K318E

c.952A>G

1 paper

NM_004632.4

p.L316insFs

c.946_947insA

1 paper

NM_004632.4

p.A309insFs

c.925_926insA

1 paper

NM_004632.4

p.S308S

c.924G>A

1 paper

NM_004632.4

p.W301_H302Splc

c.904-21G>T

2 papers

NM_004632.4

p.P281_I282Splc

c.844-4G>A

1 paper

NM_004632.4

p.R276fs

c.826_827fs

1 paper

NM_004632.4

p.L274L

c.822G>A

1 paper

NM_004632.4

p.T272A

c.814A>G

1 paper

NM_004632.4

p.G270E

c.809G>A