Varaico: Literature-Extracted Genetic Variants

Gene:COASY
Variant:p.E408K

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.E408K
c.1222G>A
Surrounding Variants
1 paper
NM_025233.7
p.P405L
c.1214C>T
1 paper
NM_025233.7
p.G411R
c.1231G>A
1 paper
NM_025233.7
p.G411R
c.1231G>C
1 paper
NM_025233.7
p.G411V
c.1232G>T
1 paper
NM_025233.7
p.Q404L
c.1211A>T
1 paper
NM_025233.7
p.Y403*
c.1209C>A
1 paper
NM_025233.7
p.Y403*
c.1209C>G
1 paper
NM_025233.7
p.D413Splc
c.1237+1G>C
1 paper
NM_025233.7
p.G399S
c.1195G>A
1 paper
NM_025233.7
p.G399R
c.1195G>C
1 paper
NM_025233.7
p.G399C
c.1195G>T
1 paper
NM_025233.7
p.P398L
c.1193C>T
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