Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A6
Variant:p.A233S

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
1 paper
NM_001072.4
p.A233S
c.697G>T
Surrounding Variants
1 paper
NM_001072.4
p.L237I
c.709C>A
1 paper
NM_001072.4
p.L237H
c.710T>A
1 paper
NM_001072.4
p.L225L
c.673C>T
1 paper
NM_001072.4
p.D242E
c.726T>G
1 paper
NM_001072.4
p.I244I
c.732C>A
1 paper
NM_001072.4
p.Y220S
c.659A>C
1 paper
NM_001072.4
p.P219P
c.657C>A
1 paper
NM_001072.4
p.P219P
c.657C>T
2 papers
NM_001072.4
p.Y247D
c.739T>G
1 paper
NM_001072.4
p.Q248K
c.742C>A
3 papers
NM_001072.4
p.E218K
c.652G>A
1 paper
NM_001072.4
p.K249R
c.746A>G
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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."