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

14 papers

NM_001701.4

p.M76V

c.226A>G

Surrounding Variants

1 paper

NM_001701.4

p.G72A

c.215G>C

1 paper

NM_001701.4

p.S81F

c.242C>T

2 papers

NM_001701.4

p.D69V

c.206A>T

2 papers

NM_001701.4

p.P84T

c.250C>A

1 paper

NM_001701.4

p.N61I

c.182A>T

1 paper

NM_001701.4

p.N61S

c.182A>G

1 paper

NM_001701.4

p.V96L

c.286G>C

1 paper

NM_001701.4

p.N53I

c.158A>T

1 paper

NM_001701.4

p.P100insFs

c.298_299ins4

1 paper

NM_001701.4

p.H49H

c.147C>T

1 paper

NM_001701.4

p.E39K

c.115G>A

1 paper

NM_001701.4

p.I113L

c.337A>T