Varaico: Literature-Extracted Genetic Variants

Gene:COASY
Variant:p.A509V

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.A509V
c.1526C>T
Surrounding Variants
2 papers
NM_025233.7
p.G505D
c.1514G>A
1 paper
NM_025233.7
p.R514Q
c.1541G>A
1 paper
NM_025233.7
p.D504N
c.1510G>A
2 papers
NM_025233.7
p.S517delFs
c.1549_1550delAG
2 papers
NM_025233.7
p.S517fs
c.1549_1550fs
1 paper
NM_025233.7
p.M519V
c.1555A>G
12 papers
NM_025233.7
p.R499C
c.1495C>T
NM_001042532.4
p.R528C
c.1582C>T
2 papers
NM_025233.7
p.G521R
c.1561G>A
2 papers
NM_025233.7
p.G521R
c.1561G>C
2 papers
NM_025233.7
p.A496fs
c.1486_1487fs
6 papers
NM_025233.7
p.E495_A496Splc
c.1486-3C>G
1 paper
NM_025233.7
p.H529D
c.1585C>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."