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.V175A

c.524T>C

Surrounding Variants

1 paper

NM_201648.3

p.V175insFs

c.523_524insA

1 paper

NM_201648.3

p.V175I

c.523G>A

1 paper

NM_201648.3

p.T176I

c.527C>T

1 paper

NM_201648.3

p.D174V

c.521A>T

1 paper

NM_201648.3

p.D174H

c.520G>C

2 papers

NM_201648.3

p.D174N

c.520G>A

1 paper

NM_201648.3

p.M173I

c.519G>T

1 paper

NM_201648.3

p.M173I

c.519G>C

1 paper

NM_201648.3

p.M173I

c.519G>A

1 paper

NM_201648.3

p.H177R

c.530A>G

1 paper

NM_201648.3

p.S172P

c.514T>C

1 paper

NM_201648.3

p.S171P

c.511T>C