Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.P80delFs

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.P80delFs
c.238_239delCC
Surrounding Variants
1 paper
NM_000463.3
p.P80_P82delFs
c.239_245del7
1 paper
NM_000463.3
p.Y79*
c.237C>A
2 papers
NM_000463.3
p.P80insFs
c.238_239ins4
1 paper
NM_000463.3
p.Y79*
c.237C>G
1 paper
NM_000463.3
p.P80del1
c.238_240delCCT
1 paper
NM_000463.3
p.T78T
c.234G>A
1 paper
NM_000463.3
p.Y79delFs
c.235delT
1 paper
NM_000463.3
p.T78K
c.233C>A
1 paper
NM_000463.3
p.P80R
c.239C>G
5 papers
NM_000463.3
p.T78M
c.233C>T
1 paper
NM_000463.3
p.P80P
c.240T>A
1 paper
NM_000463.3
p.K77K
c.231G>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."