Varaico: Literature-Extracted Genetic Variants

Gene:COASY
Variant:p.G478S

COASY

242 papers

RefSeq Summary

Coenzyme A (CoA) functions as a carrier of acetyl and acyl groups in cells and thus plays an important role in numerous synthetic and degradative metabolic pathways in all organisms. In eukaryotes, Co...

Pfam Domains

CTP_transf_likeaa 195–339UCSCCytidylyltransferase-like
CoaEaa 359–535UCSCDephospho-CoA kinase

Gene Aliases

HGNC Name

Coenzyme A synthase

HGNC Alias Symbols

DPCK; NBP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025233.7
p.G478S
c.1432G>A
Surrounding Variants
1 paper
NM_025233.7
p.G478A
c.1433G>C
1 paper
NM_025233.7
p.G478V
c.1433G>T
1 paper
NM_025233.7
p.L482L
c.1444C>T
1 paper
NM_025233.7
p.V468insFs
c.1403_1404dupTG
1 paper
NM_025233.7
p.R465fs
c.1393_1394fs
1 paper
NM_025233.7
p.R465delFs
c.1394_1395delGT
1 paper
NM_025233.7
p.R465fs
c.1393_1394fs
1 paper
NM_025233.7
p.K464_R465delFs
c.1392_1393delGC
1 paper
NM_025233.7
p.G463Splc
c.1388-2A>G
1 paper
NM_025233.7
p.T494S
c.1480A>T
1 paper
NM_025233.7
p.T494S
c.1481C>G
6 papers
NM_025233.7
p.E495_A496Splc
c.1486-3C>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."