Varaico: Literature-Extracted Genetic Variants

GLYAT

309 papers

RefSeq Summary

The glycine-N-acyltransferase protein conjugates glycine with acyl-CoA substrates in the mitochondria. The protein is thought to be important in the detoxification of endogenous and xenobiotic acyl-Co...

Pfam Domains

Gly_acyl_tr_Naa 2–205UCSCAralkyl acyl-CoA:amino acid N-acyltransferase

Gly_acyl_tr_Caa 207–295UCSCAralkyl acyl-CoA:amino acid N-acyltransferase, C-terminal region

Gene Aliases

HGNC Name

glycine-N-acyltransferase

HGNC Alias Symbols

GAT; ACGNAT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_201648.3

p.K256Q

c.766A>C

Surrounding Variants

1 paper

NM_201648.3

p.K256R

c.767A>G

1 paper

NM_201648.3

p.G255D

c.764G>A

2 papers

NM_201648.3

p.L257F

c.769C>T

1 paper

NM_201648.3

p.L257I

c.769C>A

1 paper

NM_201648.3

p.G258W

c.772G>T

1 paper

NM_201648.3

p.G258R

c.772G>C

1 paper

NM_201648.3

p.G258R

c.772G>A

1 paper

NM_201648.3

p.P260S

c.778C>T

1 paper

NM_201648.3

p.Q252*

c.754C>T

1 paper

NM_201648.3

p.A251V

c.752C>T

1 paper

NM_201648.3

p.A251S

c.751G>T

1 paper

NM_201648.3

p.A251P

c.751G>C