Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.V452fs

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.V452fs
c.1354_1355fs
Surrounding Variants
3 papers
NM_000463.3
p.P451Q
c.1352C>A
22 papers
NM_000463.3
p.P451L
c.1352C>T
1 paper
NM_000463.3
p.V452_E453delFs
c.1354_1357del4
1 paper
NM_000463.3
p.P451A
c.1351C>G
2 papers
NM_000463.3
p.E453Q
c.1357G>C
3 papers
NM_000463.3
p.R450H
c.1349G>A
3 papers
NM_000463.3
p.R450C
c.1348C>T
2 papers
NM_000463.3
p.P454S
c.1360C>T
3 papers
NM_000463.3
p.P454L
c.1361C>T
1 paper
NM_000463.3
p.D449Y
c.1345G>T
2 papers
NM_000463.3
p.D456H
c.1366G>C
1 paper
NM_000463.3
p.D456insFs
c.1366_1367insC
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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."