Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.E463D

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
3 papers
NM_000463.3
p.E463D
c.1389G>T
Surrounding Variants
3 papers
NM_000463.3
p.E463D
c.1389G>C
1 paper
NM_000463.3
p.F464delFs
c.1392delT
6 papers
NM_000463.3
p.E463A
c.1388A>C
3 papers
NM_000463.3
p.E463V
c.1388A>T
1 paper
NM_000463.3
p.F464fs
c.1390_1391fs
1 paper
NM_000463.3
p.E463K
c.1387G>A
1 paper
NM_000463.3
p.V462V
c.1386G>A
1 paper
NM_000463.3
p.V465L
c.1393G>C
1 paper
NM_000463.3
p.V465L
c.1393G>T
1 paper
NM_000463.3
p.V462M
c.1384G>A
1 paper
NM_000463.3
p.V465G
c.1394T>G
7 papers
NM_000463.3
p.W461R
c.1381T>A
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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."