Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.R442R

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.R442R
c.1326C>T
Surrounding Variants
1 paper
NM_000463.3
p.L443I
c.1327C>A
1 paper
NM_000463.3
p.L443F
c.1327C>T
2 papers
NM_000463.3
p.R442H
c.1325G>A
3 papers
NM_000463.3
p.R442C
c.1324C>T
4 papers
NM_000463.3
p.L443P
c.1328T>C
2 papers
NM_000463.3
p.M441T
c.1322T>C
2 papers
NM_000463.3
p.M441insFs
c.1321_1322insT
1 paper
NM_000463.3
p.S444Y
c.1331C>A
1 paper
NM_000463.3
p.S444F
c.1331C>T
1 paper
NM_000463.3
p.S445_L446del2
c.1333_1337del6
1 paper
NM_000463.3
p.M441_R442delFs
c.1321_1325del5
1 paper
NM_000463.3
p.S445I
c.1334G>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."