Varaico: Literature-Extracted Genetic Variants

Gene:CHAC2
Variant:p.P16L

CHAC2

15 papers

RefSeq Summary

The protein encoded by this gene is a gamma-glutamyl cyclotransferase that catalyzes the conversion of glutathione to 5-oxoproline and cysteinylglycine. It is thought that this gene is upregulated in ...

Pfam Domains

ChaCaa 1–174UCSCChaC-like protein

Gene Aliases

HGNC Name

ChaC glutathione specific gamma-glutamylcyclotransferase 2

HGNC Alias Symbol

GCG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001008708.4
p.P16L
c.47C>T
Surrounding Variants
1 paper
NM_001008708.4
p.G7R
c.19G>A
1 paper
NM_001008708.4
p.G7R
c.19G>C
1 paper
NM_001008708.4
p.G35fs
c.103_104fs
1 paper
NM_001008708.4
p.S36insFs
c.106dupA
1 paper
NM_001008708.4
p.T91I
c.272C>T
1 paper
NM_001008708.4
p.P103S
c.307C>T
1 paper
NM_001008708.4
p.T112P
c.334A>C
1 paper
NM_001008708.4
p.N115S
c.344A>G
1 paper
NM_001008708.4
p.N115K
c.345T>A
1 paper
NM_001008708.4
p.N115K
c.345T>G
1 paper
NM_001008708.4
p.G120S
c.358G>A
1 paper
NM_001008708.4
p.N180K
c.540C>A
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