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.S123S

c.369C>G

Surrounding Variants

1 paper

NM_201648.3

p.F124I

c.370T>A

1 paper

NM_201648.3

p.K122R

c.365A>G

1 paper

NM_201648.3

p.K125R

c.374A>G

1 paper

NM_201648.3

p.K122Q

c.364A>C

1 paper

NM_201648.3

p.I121delFs

c.363delA

1 paper

NM_201648.3

p.K125K

c.375A>G

1 paper

NM_201648.3

p.I121T

c.362T>C

1 paper

NM_201648.3

p.I121N

c.362T>A

1 paper

NM_201648.3

p.A120T

c.358G>A

1 paper

NM_201648.3

p.K127R

c.380A>G

1 paper

NM_201648.3

p.A119V

c.356C>T

2 papers

NM_201648.3

p.A119S

c.355G>T