Varaico: Literature-Extracted Genetic Variants

Gene:COASY
Variant:p.Y72H

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.Y72H
c.214T>C
Surrounding Variants
3 papers
NM_025233.7
p.G74S
c.220G>A
1 paper
NM_025233.7
p.A75V
c.224C>T
1 paper
NM_025233.7
p.H78_L81del0
c.234_242del9
1 paper
NM_025233.7
p.E63Q
c.187G>C
1 paper
NM_025233.7
p.F62L
c.186T>A
1 paper
NM_025233.7
p.L81F
c.243G>C
1 paper
NM_025233.7
p.A60A
c.180C>A
1 paper
NM_025233.7
p.V83G
c.248T>G
4 papers
NM_025233.7
p.Q59*
c.175C>T
1 paper
NM_025233.7
p.P57P
c.171C>T
1 paper
NM_025233.7
p.T88_N89del1
c.263_265delCCA
1 paper
NM_025233.7
p.T88A
c.262A>G
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