Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.N392D

GCDH

463 papers

RefSeq Summary

The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysi...

Pfam Domains

Acyl-CoA_dh_Naa 61–172UCSCAcyl-CoA dehydrogenase, N-terminal domain
Acyl-CoA_dh_Maa 176–269UCSCAcyl-CoA dehydrogenase, middle domain
Acyl-CoA_dh_1aa 287–429UCSCAcyl-CoA dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

glutaryl-CoA dehydrogenase

HGNC Alias Symbols

ACAD5; GCD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_000159.4
p.N392D
c.1174A>G
Surrounding Variants
1 paper
NM_000159.4
p.N392fs
c.1174_1175fs
9 papers
NM_000159.4
p.N392fs
c.1174_1175fs
2 papers
NM_000159.4
p.N392S
c.1175A>G
3 papers
NM_000159.4
p.G391_N392insFs
c.1173_1174insT
10 papers
NM_000159.4
p.G391G
c.1173G>T
2 papers
NM_000159.4
p.G391insFs
c.1172_1173insT
2 papers
NM_000159.4
p.G391V
c.1172G>T
2 papers
NM_000159.4
p.G393E
c.1178G>A
7 papers
NM_000159.4
p.G390E
c.1169G>A
13 papers
NM_000159.4
p.G390A
c.1169G>C
5 papers
NM_000159.4
p.G390V
c.1169G>T
10 papers
NM_000159.4
p.G390R
c.1168G>A
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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."