Varaico: Literature-Extracted Genetic Variants

Gene:KGD4
Variant:p.E95*

KGD4

7 papers

RefSeq Summary

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. The mitochondrial ribosome (mitoribosome) consists of a small 28S subuni...

Gene Aliases

HGNC Name

alpha-ketoglutarate dehydrogenase subunit 4

HGNC Previous Symbol

MRPS36

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_033281.6
p.E95*
c.283G>T
Surrounding Variants
1 paper
NM_033281.6
p.R99P
c.296G>C
1 paper
NM_033281.6
p.N31S
c.92A>G
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