Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A6
Variant:p.F199F

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.F199F
c.597T>C
Surrounding Variants
1 paper
NM_001072.4
p.S206P
c.616T>C
2 papers
NM_001072.4
p.R208*
c.622C>T
1 paper
NM_001072.4
p.S190P
c.568T>C
9 papers
NM_001072.4
p.V209V
c.627G>T
3 papers
NM_001072.4
p.P186S
c.556C>T
115 papers
NM_001072.4
p.R184S
c.552A>C
1 paper
NM_001072.4
p.R184R
c.552A>G
87 papers
NM_001072.4
p.R184S
c.552A>T
1 paper
NM_001072.4
p.N215S
c.644A>G
3 papers
NM_001072.4
p.E218K
c.652G>A
124 papers
NM_001072.4
p.T181A
c.541A>G
2 papers
NM_001072.4
p.T181S
c.541A>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."