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.G230R

c.688G>C

Surrounding Variants

1 paper

NM_001701.4

p.G230R

c.688G>A

1 paper

NM_001701.4

p.V232delFs

c.695_696delGA

1 paper

NM_001701.4

p.F225Y

c.674T>A

1 paper

NM_001701.4

p.C235S

c.703T>A

1 paper

NM_001701.4

p.C235S

c.704G>C

1 paper

NM_001701.4

p.K223_V224Splc

c.670-2A>G

1 paper

NM_001701.4

p.G237E

c.710G>A

1 paper

NM_001701.4

p.L248L

c.742C>T

1 paper

NM_001701.4

p.T254M

c.761C>T

2 papers

NM_001701.4

p.L256delFs

c.767delA

1 paper

NM_001701.4

p.T260N

c.779C>A

1 paper

NM_001701.4

p.I266T

c.797T>C