Varaico: Literature-Extracted Genetic Variants

UGT2A1

59 papers

RefSeq Summary

The protein encoded by this gene belongs to the UDP-glycosyltransferase family. Members of this protein family play a role in the conjugation and subsequent elimination of potentially toxic xenobiotic...

Pfam Domains

UDPGTaa 21–239UCSCUDP-glucoronosyl and UDP-glucosyl transferase

UDPGTaa 236–499UCSCUDP-glucoronosyl and UDP-glucosyl transferase

UDPGTaa 497–691UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glucuronosyltransferase family 2 member A1 complex locus

HGNC Previous Names

UDP glycosyltransferase 2 family, polypeptide A1; UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus

Papers

RefSeq ID

Protein change

DNA change

1–12 of 56 variants

4 papers

NM_001252275.3

p.Y192*

c.576T>A

3 papers

NM_001252275.3

p.V391I

c.1171G>A

2 papers

NM_001252275.3

p.V129I

c.385G>A

2 papers

NM_001252275.3

p.Y192*

c.576T>G

2 papers

NM_001252275.3

p.L197S

c.590T>C

2 papers

NM_001252275.3

p.E380K

c.1138G>A

1 paper

NM_001252275.3

p.N3insFs

c.7dupA

1 paper

NM_001252275.3

p.S9T

c.25T>A

1 paper

NM_001252275.3

p.G20S

c.58G>A

1 paper

NM_001252275.3

p.W33*

c.99G>A

1 paper

NM_001252275.3

p.K37N

c.111G>T

1 paper

NM_001252275.3

p.K37N

c.111G>C