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.Y237C

c.710A>G

Surrounding Variants

1 paper

NM_201648.3

p.Y237insFs

c.709_710insC

1 paper

NM_201648.3

p.R238W

c.712C>T

2 papers

NM_201648.3

p.R238Q

c.713G>A

1 paper

NM_201648.3

p.L239F

c.715C>T

3 papers

NM_201648.3

p.P235L

c.704C>T

1 paper

NM_201648.3

p.H240Y

c.718C>T

1 paper

NM_201648.3

p.H240R

c.719A>G

1 paper

NM_201648.3

p.H240Q

c.720T>G

1 paper

NM_201648.3

p.H240Q

c.720T>A

2 papers

NM_201648.3

p.G241D

c.722G>A

1 paper

NM_201648.3

p.T233S

c.698C>G

1 paper

NM_201648.3

p.T233S

c.697A>T