Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A6
Variant:p.K280K

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.K280K
c.840G>A
Surrounding Variants
1 paper
NM_001072.4
p.D284N
c.850G>A
1 paper
NM_001072.4
p.L285V
c.853T>G
1 paper
NM_001072.4
p.G276R
c.826G>C
1 paper
NM_001072.4
p.I274T
c.821T>C
3 papers
NM_001072.4
p.M268I
c.804G>A
1 paper
NM_001072.4
p.M268V
c.802A>G
2 papers
NM_001072.4
p.P264P
c.792T>C
1 paper
NM_001072.4
p.L261L
c.783T>C
1 paper
NM_001072.4
p.D258V
c.773A>T
2 papers
NM_001072.4
p.L255F
c.765A>C
1 paper
NM_001072.4
p.L255L
c.765A>G
1 paper
NM_001072.4
p.L254L
c.760C>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."