Varaico: Literature-Extracted Genetic Variants

BAAT

169 papers

RefSeq Summary

The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid...

Pfam Domains

Bile_Hydr_Transaa 14–144UCSCAcyl-CoA thioester hydrolase/BAAT N-terminal region

BAAT_Caa 206–412UCSCBAAT / Acyl-CoA thioester hydrolase C terminal

Gene Aliases

HGNC Name

bile acid-CoA:amino acid N-acyltransferase

HGNC Alias Symbols

BAT; BACAT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001701.4

p.L293Q

c.878T>A

Surrounding Variants

1 paper

NM_001701.4

p.L292I

c.874T>A

1 paper

NM_001701.4

p.R297H

c.890G>A

1 paper

NM_001701.4

p.S286F

c.857C>T

1 paper

NM_001701.4

p.S286Y

c.857C>A

1 paper

NM_001701.4

p.Q303L

c.908A>T

1 paper

NM_001701.4

p.Q308K

c.922C>A

1 paper

NM_001701.4

p.Q273*

c.817C>T

1 paper

NM_001701.4

p.E314K

c.940G>A

1 paper

NM_001701.4

p.E315K

c.943G>A

1 paper

NM_001701.4

p.H271N

c.811C>A

1 paper

NM_001701.4

p.G318E

c.953G>A

1 paper

NM_001701.4

p.P267L

c.800C>T