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

Selected Variant

1 paper

NM_001252275.3

p.Y188H

c.562T>C

Surrounding Variants

1 paper

NM_001252275.3

p.P187A

c.559C>G

2 papers

NM_001252275.3

p.Y192*

c.576T>G

4 papers

NM_001252275.3

p.Y192*

c.576T>A

2 papers

NM_001252275.3

p.L197S

c.590T>C

1 paper

NM_001252275.3

p.T207T

c.621T>A

1 paper

NM_001252275.3

p.H217Q

c.651C>G

1 paper

NM_001252275.3

p.S235R

c.703A>C

1 paper

NM_001252275.3

p.S235R

c.705T>G

1 paper

NM_001252275.3

p.S235R

c.705T>A

2 papers

NM_001252275.3

p.V129I

c.385G>A

1 paper

NM_001252275.3

p.H119N

c.355C>A

1 paper

NM_001252275.3

p.F118L

c.354C>G