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.G168D

c.503G>A

Surrounding Variants

1 paper

NM_001701.4

p.G169D

c.506G>A

1 paper

NM_001701.4

p.G169fs

c.505_506fs

1 paper

NM_001701.4

p.G162R

c.484G>C

1 paper

NM_001701.4

p.G162R

c.484G>A

1 paper

NM_001701.4

p.E175K

c.523G>A

1 paper

NM_001701.4

p.R177Q

c.530G>A

1 paper

NM_001701.4

p.L159F

c.475C>T

1 paper

NM_001701.4

p.A182S

c.544G>T

1 paper

NM_001701.4

p.A187V

c.560C>T

1 paper

NM_001701.4

p.L189_A190delFs

c.565_568del4

4 papers

NM_001701.4

p.R201P

c.602G>C

1 paper

NM_001701.4

p.E204Q

c.610G>C