Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A6
Variant:p.F144S

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.F144S
c.431T>C
Surrounding Variants
1 paper
NM_001072.4
p.D145A
c.434A>C
1 paper
NM_001072.4
p.E141G
c.422A>G
2 papers
NM_001072.4
p.L147P
c.440T>C
2 papers
NM_001072.4
p.K140K
c.420G>A
1 paper
NM_001072.4
p.D150N
c.448G>A
1 paper
NM_001072.4
p.D150A
c.449A>C
1 paper
NM_001072.4
p.D150E
c.450C>A
1 paper
NM_001072.4
p.D150E
c.450C>G
2 papers
NM_001072.4
p.Q131R
c.392A>G
4 papers
NM_001072.4
p.Q131K
c.391C>A
1 paper
NM_001072.4
p.S128N
c.383G>A
1 paper
NM_001072.4
p.Q127Q
c.381G>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."