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.G386R

c.1156G>C

Surrounding Variants

2 papers

NM_001701.4

p.G386R

c.1156G>A

2 papers

NM_001701.4

p.H378H

c.1134C>T

1 paper

NM_001701.4

p.P370S

c.1108C>T

1 paper

NM_001701.4

p.I402N

c.1205T>A

1 paper

NM_001701.4

p.P367delFs

c.1100delG

1 paper

NM_001701.4

p.R404R

c.1210A>C

1 paper

NM_001701.4

p.I364T

c.1091T>C

1 paper

NM_001701.4

p.G361fs

c.1081_1082fs

1 paper

NM_001701.4

p.G361delFs

c.1082delC

1 paper

NM_001701.4

p.G361D

c.1082G>A

1 paper

NM_001701.4

p.Q417K

c.1249C>A

1 paper

NM_001701.4

p.W352R

c.1054T>C