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.I197V

c.589A>G

Surrounding Variants

1 paper

NM_201648.3

p.I197T

c.590T>C

1 paper

NM_201648.3

p.F196L

c.588C>G

1 paper

NM_201648.3

p.F196L

c.588C>A

1 paper

NM_201648.3

p.F196L

c.586T>C

1 paper

NM_201648.3

p.F196I

c.586T>A

1 paper

NM_201648.3

p.R195S

c.585A>T

1 paper

NM_201648.3

p.E198G

c.593A>G

1 paper

NM_201648.3

p.E198A

c.593A>C

1 paper

NM_201648.3

p.R195S

c.585A>C

1 paper

NM_201648.3

p.R195K

c.584G>A

6 papers

NM_201648.3

p.R199C

c.595C>T

1 paper

NM_201648.3

p.R199S

c.595C>A