Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A6
Variant:p.N114K

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.N114K
c.342T>G
Surrounding Variants
1 paper
NM_001072.4
p.N114K
c.342T>A
1 paper
NM_001072.4
p.N115S
c.344A>G
1 paper
NM_001072.4
p.R113S
c.339G>C
1 paper
NM_001072.4
p.I117L
c.349A>C
1 paper
NM_001072.4
p.P108A
c.322C>G
12 papers
NM_001072.4
p.L105L
c.315A>G
2 papers
NM_001072.4
p.F123F
c.369C>T
8 papers
NM_001072.4
p.S103*
c.308C>A
6 papers
NM_001072.4
p.S103*
c.308C>G
2 papers
NM_001072.4
p.C126C
c.378C>T
1 paper
NM_001072.4
p.Q127Q
c.381G>A
1 paper
NM_001072.4
p.S128N
c.383G>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."