Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.A46T

UGT1A1

1,221 papers

RefSeq Summary

This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-solub...

Pfam Domains

UDPGTaa 28–524UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glucuronosyltransferase family 1 member A1

HGNC Previous Symbols

UGT1; GNT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000463.3
p.A46T
c.136G>A
Surrounding Variants
1 paper
NM_000463.3
p.I47del1
c.139_140delATC
1 paper
NM_000463.3
p.G45E
c.134G>A
1 paper
NM_000463.3
p.I47F
c.139A>T
1 paper
NM_000463.3
p.G45W
c.133G>T
6 papers
NM_000463.3
p.I47T
c.140T>C
2 papers
NM_000463.3
p.L44L
c.132T>C
3 papers
NM_000463.3
p.I47I
c.141C>T
1 paper
NM_000463.3
p.L44P
c.131T>C
1 paper
NM_000463.3
p.Q48L
c.143A>T
1 paper
NM_000463.3
p.M43_L44insFs
c.129_130insC
1 paper
NM_000463.3
p.Q48Q
c.144G>A
1 paper
NM_000463.3
p.Q48H
c.144G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."