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

3 papers

NM_201648.3

p.P295L

c.884C>T

Surrounding Variants

1 paper

NM_201648.3

p.V294A

c.881T>C

1 paper

NM_201648.3

p.V294L

c.880G>C

1 paper

NM_201648.3

p.C293W

c.879T>G

1 paper

NM_201648.3

p.C293S

c.878G>C

1 paper

NM_201648.3

p.C293Y

c.878G>A

2 papers

NM_201648.3

p.C293S

c.877T>A

1 paper

NM_201648.3

p.N292N

c.876C>T

1 paper

NM_201648.3

p.W291C

c.873G>T

1 paper

NM_201648.3

p.W291C

c.873G>C

1 paper

NM_201648.3

p.Q290P

c.869A>C

1 paper

NM_201648.3

p.N289K

c.867C>G

1 paper

NM_201648.3

p.N289K

c.867C>A