Varaico: Literature-Extracted Genetic Variants

Gene:COASY
Variant:p.Y141H

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.Y141H
c.421T>C
Surrounding Variants
1 paper
NM_025233.7
p.C140_Y141ins4
c.418_422ins12
1 paper
NM_025233.7
p.S139S
c.417C>T
1 paper
NM_025233.7
p.C143S
c.427T>A
1 paper
NM_025233.7
p.C143S
c.428G>C
1 paper
NM_025233.7
p.C144S
c.431G>C
1 paper
NM_025233.7
p.Y136C
c.407A>G
1 paper
NM_025233.7
p.Y136F
c.407A>T
1 paper
NM_025233.7
p.L147_A148insFs
c.439_442dup4
1 paper
NM_025233.7
p.Q131Q
c.393G>A
1 paper
NM_025233.7
p.L151insFs
c.451_452insC
1 paper
NM_025233.7
p.K130_Q131insC
c.388_392ins3
1 paper
NM_025233.7
p.V129V
c.387C>T
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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."