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.T144S

c.431C>G

Surrounding Variants

1 paper

NM_201648.3

p.T144I

c.431C>T

1 paper

NM_201648.3

p.T144S

c.430A>T

1 paper

NM_201648.3

p.P145L

c.434C>T

1 paper

NM_201648.3

p.L143L

c.427C>T

1 paper

NM_201648.3

p.E142G

c.425A>G

1 paper

NM_201648.3

p.E142K

c.424G>A

2 papers

NM_201648.3

p.T139P

c.415A>C

1 paper

NM_201648.3

p.K151N

c.453G>T

1 paper

NM_201648.3

p.K151N

c.453G>C

1 paper

NM_201648.3

p.A136insFs

c.406_407insT

1 paper

NM_201648.3

p.A136T

c.406G>A

1 paper

NM_201648.3

p.M135_A136insFs

c.405_406insC