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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SUGCT

Variant:p.R329W

SUGCT

50 papers

RefSeq Summary

This gene encodes a protein that is similar to members of the CaiB/baiF CoA-transferase protein family. Mutations in this gene are associated with glutaric aciduria type III. Alternate splicing result...

Pfam Domains

CoA_transf_3aa 41–408UCSCCoA-transferase family III

Gene Aliases

HGNC Name

succinyl-CoA:glutarate-CoA transferase

HGNC Previous Symbol

C7orf10

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr7:40459197 C>T

NM_001193313.2

p.R329W

c.985C>T

CoA_transf_3

Exome: 0.6% (AC=8142, hom=28)Genome: 0.5% (AC=702, hom=4)89 overlapping SVs

Surrounding Variants

1 paper

chr7:40459176 C>T

NM_001193313.2

p.L322F

c.964C>T

CoA_transf_3

exact variant not in gnomAD89 overlapping SVs

1 paper

chr7:40459164 A>G

NM_001193313.2

p.N318D

c.952A>G

CoA_transf_3

Exome: 0.0% (AC=1, hom=0)Genome: n/a89 overlapping SVs

1 paper

chr7:40459155 C>T

NM_001193313.2

p.R315W

c.943C>T

CoA_transf_3

Exome: 0.0% (AC=65, hom=0)Genome: 0.0% (AC=3, hom=0)89 overlapping SVs

1 paper

chr7:40459108 A>G

NM_001193313.2

p.D299G

c.896A>G

CoA_transf_3

exact variant not in gnomAD89 overlapping SVs

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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."