Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.P364L

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
89 papers
NM_000463.3
p.P364L
c.1091C>T
Surrounding Variants
1 paper
NM_000463.3
p.H363_P364insFs
c.1089_1090insG
1 paper
NM_000463.3
p.H363Y
c.1087C>T
1 paper
NM_000463.3
p.R367_A368del2
c.1099_1103del6
1 paper
NM_000463.3
p.G362G
c.1086T>C
2 papers
NM_000463.3
p.G362V
c.1085G>T
5 papers
NM_000463.3
p.G362Splc
c.1085-2A>G
1 paper
NM_000463.3
p.G362Splc
c.1085-2A>T
35 papers
NM_000463.3
p.R367G
c.1099C>G
6 papers
NM_000463.3
p.R367C
c.1099C>T
1 paper
NM_000463.3
p.R367H
c.1100G>A
14 papers
NM_000463.3
p.A368T
c.1102G>A
2 papers
NM_000463.3
p.A368S
c.1102G>T
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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."