Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.L13R

UGT1A1

1,221 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 28–524UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glucuronosyltransferase family 1 member A1

HGNC Previous Symbols

UGT1; GNT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000463.3
p.L13R
c.38T>G
Surrounding Variants
2 papers
NM_000463.3
p.L13P
c.38T>C
11 papers
NM_000463.3
p.G14insFs
c.40dupG
2 papers
NM_000463.3
p.L13L
c.39G>C
16 papers
NM_000463.3
p.L13_G14insFs
c.39_40insTA
1 paper
NM_000463.3
p.L13_G14insFs
c.39_40ins4
1 paper
NM_000463.3
p.V12V
c.36C>T
2 papers
NM_000463.3
p.G14S
c.40G>A
3 papers
NM_000463.3
p.G14insFs
c.40_41insTA
1 paper
NM_000463.3
p.G14insFs
c.40_41ins4
1 paper
NM_000463.3
p.G14D
c.41G>A
1 paper
NM_000463.3
p.G14V
c.41G>T
2 papers
NM_000463.3
p.V12A
c.35T>C
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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."