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.Q6*

c.16C>T

Surrounding Variants

2 papers

NM_201648.3

p.Q6E

c.16C>G

1 paper

NM_201648.3

p.Q6K

c.16C>A

1 paper

NM_201648.3

p.L5F

c.15G>T

1 paper

NM_201648.3

p.L5F

c.15G>C

1 paper

NM_201648.3

p.Q6H

c.18A>T

1 paper

NM_201648.3

p.Q6H

c.18A>C

1 paper

NM_201648.3

p.L5_Q6insAA

c.13_17ins6

1 paper

NM_201648.3

p.P4L

c.11C>T

1 paper

NM_201648.3

p.P4T

c.10C>A

1 paper

NM_201648.3

p.A8D

c.23C>A

1 paper

NM_201648.3

p.L3F

c.9A>T

1 paper

NM_201648.3

p.L3F

c.9A>C