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.T129T

c.387A>C

Surrounding Variants

1 paper

NM_201648.3

p.T129I

c.386C>T

1 paper

NM_201648.3

p.F124_Q130del0

c.372_389del18

4 papers

NM_201648.3

p.R131C

c.391C>T

1 paper

NM_201648.3

p.R131S

c.391C>A

8 papers

NM_201648.3

p.R131H

c.392G>A

1 paper

NM_201648.3

p.K127R

c.380A>G

1 paper

NM_201648.3

p.L133R

c.398T>G

1 paper

NM_201648.3

p.L133H

c.398T>A

1 paper

NM_201648.3

p.K125K

c.375A>G

1 paper

NM_201648.3

p.K125R

c.374A>G

1 paper

NM_201648.3

p.Y134S

c.401A>C

1 paper

NM_201648.3

p.M135K

c.404T>A