Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A6
Variant:p.H54Q

UGT1A6

284 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 27–523UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glucuronosyltransferase family 1 member A6

HGNC Alias Symbols

HLUGP; GNT1; UGT1F

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001072.4
p.H54Q
c.162T>A
Surrounding Variants
4 papers
NM_001072.4
p.H54Q
c.162T>G
1 paper
NM_001072.4
p.H54R
c.161A>G
5 papers
NM_001072.4
p.E55K
c.163G>A
1 paper
NM_001072.4
p.H54fs
c.160_161fs
1 paper
NM_001072.4
p.E55E
c.165G>A
1 paper
NM_001072.4
p.G53delFs
c.159delT
1 paper
NM_001072.4
p.I56N
c.167T>A
1 paper
NM_001072.4
p.R52R
c.156G>A
1 paper
NM_001072.4
p.V57L
c.169G>T
1 paper
NM_001072.4
p.R52G
c.154C>G
1 paper
NM_001072.4
p.V59delFs
c.175delG
2 papers
NM_001072.4
p.V48A
c.143T>C
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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."