Varaico: Literature-Extracted Genetic Variants

Gene:GGACT
Variant:p.V63L

GGACT

22 papers

RefSeq Summary

The protein encoded by this gene aids in the proteolytic degradation of crosslinked fibrin by breaking down isodipeptide L-gamma-glutamyl-L-epsilon-lysine, a byproduct of fibrin degradation. The react...

Pfam Domains

GGACTaa 4–139UCSCGamma-glutamyl cyclotransferase, AIG2-like

Gene Aliases

HGNC Name

gamma-glutamylamine cyclotransferase

HGNC Previous Symbol

A2LD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001195087.2
p.V63L
c.187G>C
Surrounding Variants
1 paper
NM_001195087.2
p.I50S
c.149T>G
1 paper
NM_001195087.2
p.H48Q
c.144C>A
2 papers
NM_001195087.2
p.E82Q
c.244G>C
1 paper
NM_001195087.2
p.E82A
c.245A>C
1 paper
NM_001195087.2
p.E38Q
c.112G>C
1 paper
NM_001195087.2
p.Q89K
c.265C>A
1 paper
NM_001195087.2
p.R31Q
c.92G>A
1 paper
NM_001195087.2
p.A24D
c.71C>A
1 paper
NM_001195087.2
p.R18G
c.52A>G
1 paper
NM_001195087.2
p.G8D
c.23G>A
1 paper
NM_001195087.2
p.G8R
c.22G>C
1 paper
NM_001195087.2
p.S120R
c.358A>C
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