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.H250Q

c.750C>G

Surrounding Variants

1 paper

NM_201648.3

p.H250Q

c.750C>A

1 paper

NM_201648.3

p.A251S

c.751G>T

1 paper

NM_201648.3

p.A251P

c.751G>C

2 papers

NM_201648.3

p.A251T

c.751G>A

1 paper

NM_201648.3

p.A251V

c.752C>T

1 paper

NM_201648.3

p.Q252*

c.754C>T

1 paper

NM_201648.3

p.Y248C

c.743A>G

1 paper

NM_201648.3

p.V246G

c.737T>G

1 paper

NM_201648.3

p.V246A

c.737T>C

1 paper

NM_201648.3

p.G255D

c.764G>A

1 paper

NM_201648.3

p.K256Q

c.766A>C

1 paper

NM_201648.3

p.K256R

c.767A>G