Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.E421G

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.E421G
c.1262A>G
Surrounding Variants
1 paper
NM_000463.3
p.E421A
c.1262A>C
1 paper
NM_000463.3
p.S420S
c.1260T>A
1 paper
NM_000463.3
p.S420_E421del1
c.1260_1262delTGA
2 papers
NM_000463.3
p.E424*
c.1270G>T
2 papers
NM_000463.3
p.E424E
c.1272A>G
3 papers
NM_000463.3
p.M418delFs
c.1253delT
11 papers
NM_000463.3
p.E417K
c.1249G>A
1 paper
NM_000463.3
p.L416L
c.1248G>A
1 paper
NM_000463.3
p.A426P
c.1276G>C
1 paper
NM_000463.3
p.L427L
c.1279C>T
9 papers
NM_000463.3
p.K428E
c.1282A>G
1 paper
NM_000463.3
p.L413P
c.1238T>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."