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

2 papers

NM_001701.4

p.V137I

c.409G>A

Surrounding Variants

3 papers

NM_001701.4

p.R139*

c.415C>T

1 paper

NM_001701.4

p.A134T

c.400G>A

1 paper

NM_001701.4

p.I140S

c.419T>G

1 paper

NM_001701.4

p.K141insFs

c.421_422insT

1 paper

NM_001701.4

p.R130insFs

c.388dupA

1 paper

NM_001701.4

p.R130fs

c.388_389fs

1 paper

NM_001701.4

p.R130G

c.388A>G

1 paper

NM_001701.4

p.S125R

c.375C>G

1 paper

NM_001701.4

p.S125R

c.375C>A

1 paper

NM_001701.4

p.S125R

c.373A>C

1 paper

NM_001701.4

p.A124A

c.372C>A

1 paper

NM_001701.4

p.L151F

c.451C>T