Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.P158L

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
2 papers
NM_000463.3
p.P158L
c.473C>T
Surrounding Variants
2 papers
NM_000463.3
p.P158R
c.473C>G
1 paper
NM_000463.3
p.I159delFs
c.475delA
1 paper
NM_000463.3
p.I159insFs
c.475_476insT
1 paper
NM_000463.3
p.I159F
c.475A>T
2 papers
NM_000463.3
p.S157S
c.471C>T
2 papers
NM_000463.3
p.S157insFs
c.470_471insT
4 papers
NM_000463.3
p.S157I
c.470G>T
8 papers
NM_000463.3
p.I159T
c.476T>C
1 paper
NM_000463.3
p.I159I
c.477C>T
2 papers
NM_000463.3
p.C156insFs
c.467_468ins2
6 papers
NM_000463.3
p.V160E
c.479T>A
3 papers
NM_000463.3
p.C156R
c.466T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."