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.Y267delFs

c.801delG

Surrounding Variants

1 paper

NM_201648.3

p.Y267Y

c.801C>T

1 paper

NM_201648.3

p.D266Y

c.796G>T

1 paper

NM_201648.3

p.M272V

c.814A>G

5 papers

NM_201648.3

p.M272T

c.815T>C

1 paper

NM_201648.3

p.Q273H

c.819A>T

1 paper

NM_201648.3

p.Q273H

c.819A>C

1 paper

NM_201648.3

p.Y262S

c.785A>C

1 paper

NM_201648.3

p.K274E

c.820A>G

1 paper

NM_201648.3

p.M275I

c.825G>T

1 paper

NM_201648.3

p.M275I

c.825G>C

1 paper

NM_201648.3

p.M275I

c.825G>A

1 paper

NM_201648.3

p.P260S

c.778C>T