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

3 papers

NM_001701.4

p.R20*

c.58C>T

Surrounding Variants

3 papers

NM_001701.4

p.R20Q

c.59G>A

1 paper

NM_001701.4

p.T22S

c.64A>T

1 paper

NM_001701.4

p.G23_L24insFs

c.69_70insG

1 paper

NM_001701.4

p.P26L

c.77C>T

1 paper

NM_001701.4

p.V13F

c.37G>T

1 paper

NM_001701.4

p.L12insFs

c.34_35ins4

1 paper

NM_001701.4

p.S31N

c.92G>A

1 paper

NM_001701.4

p.P8A

c.22C>G

1 paper

NM_001701.4

p.T7T

c.21C>T

1 paper

NM_001701.4

p.T7I

c.20C>T

1 paper

NM_001701.4

p.T7A

c.19A>G

1 paper

NM_001701.4

p.L4F

c.12G>C