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.Q224H

c.672G>C

Surrounding Variants

1 paper

NM_201648.3

p.Q224H

c.672G>T

1 paper

NM_201648.3

p.T225A

c.673A>G

1 paper

NM_201648.3

p.D223E

c.669C>G

1 paper

NM_201648.3

p.D223E

c.669C>A

1 paper

NM_201648.3

p.M222T

c.665T>C

1 paper

NM_201648.3

p.M222K

c.665T>A

2 papers

NM_201648.3

p.E227Q

c.679G>C

1 paper

NM_201648.3

p.E227V

c.680A>T

1 paper

NM_201648.3

p.T215_L221insFs

c.643_661dup19

1 paper

NM_201648.3

p.M228K

c.683T>A

1 paper

NM_201648.3

p.L221V

c.661C>G

1 paper

NM_201648.3

p.D220E

c.660T>G