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.G214E

c.641G>A

Surrounding Variants

1 paper

NM_201648.3

p.G214A

c.641G>C

1 paper

NM_201648.3

p.T215A

c.643A>G

1 paper

NM_201648.3

p.T215N

c.644C>A

1 paper

NM_201648.3

p.P212insFs

c.634dupC

2 papers

NM_201648.3

p.P216S

c.646C>T

1 paper

NM_201648.3

p.P216T

c.646C>A

1 paper

NM_201648.3

p.P212H

c.635C>A

1 paper

NM_201648.3

p.P212S

c.634C>T

1 paper

NM_201648.3

p.P212A

c.634C>G

1 paper

NM_201648.3

p.V217L

c.649G>T

1 paper

NM_201648.3

p.V217L

c.649G>C

1 paper

NM_201648.3

p.L210P

c.629T>C