Varaico: Literature-Extracted Genetic Variants

Gene:COASY
Variant:p.P43S

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.P43S
c.127C>T
Surrounding Variants
1 paper
NM_025233.7
p.Q42H
c.126G>T
1 paper
NM_025233.7
p.G44insFs
c.130_131insC
1 paper
NM_025233.7
p.L41L
c.121C>T
1 paper
NM_025233.7
p.H40Q
c.120C>A
1 paper
NM_025233.7
p.V39I
c.115G>A
1 paper
NM_025233.7
p.L47insFs
c.140_141ins4
1 paper
NM_025233.7
p.Y38fs
c.112_113fs
1 paper
NM_025233.7
p.Y38insFs
c.112dupT
1 paper
NM_025233.7
p.L37L
c.111C>T
1 paper
NM_025233.7
p.E48E
c.144G>A
1 paper
NM_025233.7
p.E48D
c.144G>C
1 paper
NM_025233.7
p.G49D
c.146G>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."