Varaico: Literature-Extracted Genetic Variants

Gene:COASY
Variant:p.M340insFs

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.M340insFs
c.1018_1019insA
Surrounding Variants
1 paper
NM_025233.7
p.R339*
c.1015C>T
1 paper
NM_025233.7
p.M340fs
c.1018_1019fs
1 paper
NM_025233.7
p.G342R
c.1024G>A
1 paper
NM_025233.7
p.P347L
c.1040C>T
1 paper
NM_025233.7
p.Y349C
c.1046A>G
1 paper
NM_025233.7
p.T324T
c.972A>G
1 paper
NM_025233.7
p.R322K
c.965G>A
1 paper
NM_025233.7
p.L321V
c.961C>G
1 paper
NM_025233.7
p.D320N
c.958G>A
1 paper
NM_025233.7
p.I315M
c.945C>G
1 paper
NM_025233.7
p.E309K
c.925G>A
1 paper
NM_025233.7
p.E309*
c.925G>T
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