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.L210P

c.629T>C

Surrounding Variants

1 paper

NM_201648.3

p.L209F

c.625C>T

2 papers

NM_201648.3

p.L209_L210insC

c.625_629ins3

1 paper

NM_201648.3

p.L209I

c.625C>A

1 paper

NM_201648.3

p.P212S

c.634C>T

1 paper

NM_201648.3

p.P212A

c.634C>G

2 papers

NM_201648.3

p.C208Y

c.623G>A

1 paper

NM_201648.3

p.P212H

c.635C>A

1 paper

NM_201648.3

p.P212insFs

c.634dupC

1 paper

NM_201648.3

p.C208R

c.622T>C

1 paper

NM_201648.3

p.C207Y

c.620G>A

1 paper

NM_201648.3

p.C207R

c.619T>C

1 paper

NM_201648.3

p.G214A

c.641G>C