Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.Q288_E289Splc

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.Q288_E289Splc
c.864+1G>A
Surrounding Variants
4 papers
NM_000463.3
p.Q288_E289Splc
c.864+1G>C
2 papers
NM_000463.3
p.Q288_E289Splc
c.864+2T>C
6 papers
NM_000463.3
p.Q288_E289Splc
c.864+5G>T
2 papers
NM_000463.3
p.S287P
c.859T>C
1 paper
NM_000463.3
p.S287A
c.859T>G
1 paper
NM_000463.3
p.Q288_E289Splc
c.864+10G>A
1 paper
NM_000463.3
p.L286delFs
c.856delC
1 paper
NM_000463.3
p.N284Y
c.850A>T
1 paper
NM_000463.3
p.N284_P285delFs
c.852_855del4
1 paper
NM_000463.3
p.Q283P
c.848A>C
3 papers
NM_000463.3
p.Q283*
c.847C>T
1 paper
NM_000463.3
p.H282H
c.846C>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."