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.W50L

c.149G>T

Surrounding Variants

1 paper

NM_201648.3

p.W50G

c.148T>G

1 paper

NM_201648.3

p.W50*

c.150G>A

1 paper

NM_201648.3

p.P51S

c.151C>T

1 paper

NM_201648.3

p.P51T

c.151C>A

1 paper

NM_201648.3

p.P51L

c.152C>T

1 paper

NM_201648.3

p.D52Y

c.154G>T

1 paper

NM_201648.3

p.D52N

c.154G>A

1 paper

NM_201648.3

p.D48E

c.144C>G

1 paper

NM_201648.3

p.D48E

c.144C>A

1 paper

NM_201648.3

p.V47M

c.139G>A

1 paper

NM_201648.3

p.V46V

c.138G>A

1 paper

NM_201648.3

p.N54Y

c.160A>T