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

2 papers

NM_201648.3

p.Q61H

c.183G>T

Surrounding Variants

2 papers

NM_201648.3

p.Q61H

c.183G>C

1 paper

NM_201648.3

p.Q61Q

c.183G>A

5 papers

NM_201648.3

p.Q61L

c.182A>T

1 paper

NM_201648.3

p.Q61R

c.182A>G

1 paper

NM_201648.3

p.Q61K

c.181C>A

1 paper

NM_201648.3

p.P60L

c.179C>T

1 paper

NM_201648.3

p.P60R

c.179C>G

1 paper

NM_201648.3

p.Q63K

c.187C>A

1 paper

NM_201648.3

p.E62del1

c.184_185delCTC

1 paper

NM_201648.3

p.P60S

c.178C>T

1 paper

NM_201648.3

p.V58G

c.173T>G

1 paper

NM_201648.3

p.V58F

c.172G>T