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

1–12 of 103 variants

14 papers

NM_001701.4

p.M76V

c.226A>G

4 papers

NM_001701.4

p.R201P

c.602G>C

3 papers

NM_001701.4

p.R20*

c.58C>T

3 papers

NM_001701.4

p.R20Q

c.59G>A

3 papers

NM_001701.4

p.R139*

c.415C>T

2 papers

NM_001701.4

p.D69V

c.206A>T

2 papers

NM_001701.4

p.P84T

c.250C>A

2 papers

NM_001701.4

p.V137I

c.409G>A

2 papers

NM_001701.4

p.L256delFs

c.767delA

2 papers

NM_001701.4

p.H378H

c.1134C>T

2 papers

NM_001701.4

p.G386R

c.1156G>C

2 papers

NM_001701.4

p.G386R

c.1156G>A