Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.Q51_Q52insC

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.Q51_Q52insC
c.151_155ins3
Surrounding Variants
2 papers
NM_000463.3
p.Q51Q
c.153G>A
1 paper
NM_000463.3
p.L50L
c.148C>T
1 paper
NM_000463.3
p.Q52*
c.154C>T
4 papers
NM_000463.3
p.Q49H
c.147G>C
3 papers
NM_000463.3
p.Q49H
c.147G>T
1 paper
NM_000463.3
p.Q52Q
c.156G>A
1 paper
NM_000463.3
p.Q52H
c.156G>C
1 paper
NM_000463.3
p.Q49insFs
c.146dupA
7 papers
NM_000463.3
p.Q49*
c.145C>T
1 paper
NM_000463.3
p.Q48Q
c.144G>A
1 paper
NM_000463.3
p.Q48H
c.144G>C
1 paper
NM_000463.3
p.Q48L
c.143A>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."