Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.Q6R

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
4 papers
NM_000463.3
p.Q6R
c.17A>G
Surrounding Variants
1 paper
NM_000463.3
p.Q6L
c.17A>T
1 paper
NM_000463.3
p.Q6K
c.16C>A
1 paper
NM_000463.3
p.Q6*
c.16C>T
1 paper
NM_000463.3
p.Q6Q
c.18G>A
2 papers
NM_000463.3
p.Q6H
c.18G>C
2 papers
NM_000463.3
p.Q6H
c.18G>T
3 papers
NM_000463.3
p.S5S
c.15C>A
1 paper
NM_000463.3
p.G7G
c.21C>G
1 paper
NM_000463.3
p.G7G
c.21C>T
1 paper
NM_000463.3
p.G8delFs
c.23delG
1 paper
NM_000463.3
p.E4E
c.12G>A
1 paper
NM_000463.3
p.G8R
c.22G>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."