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.E129V

c.386A>T

Surrounding Variants

1 paper

NM_004632.4

p.E129Q

c.385G>C

2 papers

NM_004632.4

p.T132I

c.395C>T

1 paper

NM_004632.4

p.L138F

c.412C>T

1 paper

NM_004632.4

p.W150_I152del0

c.450_455del6

1 paper

NM_004632.4

p.L151insFs

c.452dupT

1 paper

NM_004632.4

p.I152fs

c.454_455fs

2 papers

NM_004632.4

p.K113_N114delFs

c.339_340delAA

1 paper

NM_004632.4

p.L99V

c.295C>G

1 paper

NM_004632.4

p.A97D

c.290C>A

1 paper

NM_004632.4

p.V91E

c.272T>A

1 paper

NM_004632.4

p.T186I

c.557C>T

1 paper

NM_004632.4

p.L188L

c.564G>A