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.I284F

c.850A>T

Surrounding Variants

1 paper

NM_201648.3

p.V282L

c.844G>C

1 paper

NM_201648.3

p.R286K

c.857G>A

1 paper

NM_201648.3

p.R286S

c.858A>T

1 paper

NM_201648.3

p.H281R

c.842A>G

1 paper

NM_201648.3

p.R286S

c.858A>C

1 paper

NM_201648.3

p.Q280R

c.839A>G

1 paper

NM_201648.3

p.L279L

c.837G>C

1 paper

NM_201648.3

p.L279V

c.835C>G

1 paper

NM_201648.3

p.N289K

c.867C>G

1 paper

NM_201648.3

p.N289K

c.867C>A

1 paper

NM_201648.3

p.Q290P

c.869A>C

1 paper

NM_201648.3

p.W291C

c.873G>T