Varaico: Literature-Extracted Genetic Variants

Gene:SUGCT
Variant:p.C126C

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001193313.2
p.C126C
c.378T>C
Surrounding Variants
1 paper
NM_001193313.2
p.A140P
c.418G>C
1 paper
NM_001193313.2
p.Y145delFs
c.434_435delAT
1 paper
NM_001193313.2
p.K104R
c.311A>G
1 paper
NM_001193313.2
p.R101*
c.301C>T
1 paper
NM_001193313.2
p.V99A
c.296T>C
1 paper
NM_001193313.2
p.Y96delFs
c.286delT
1 paper
NM_001193313.2
p.V89V
c.267T>G
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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."