Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.V19_L20insGV

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
1 paper
NM_000463.3
p.V19_L20insGV
c.55_59ins6
Surrounding Variants
1 paper
NM_000463.3
p.V19insFs
c.55_56insAT
1 paper
NM_000463.3
p.V19A
c.56T>C
1 paper
NM_000463.3
p.V19ins2
c.55_56ins6
2 papers
NM_000463.3
p.V19_H26insFs
c.55_76dup22
1 paper
NM_000463.3
p.C18Y
c.53G>A
1 paper
NM_000463.3
p.C18insFs
c.53_54insAT
8 papers
NM_000463.3
p.C18_V19insFs
c.54_55insAT
1 paper
NM_000463.3
p.C18F
c.53G>T
1 paper
NM_000463.3
p.L20L
c.58C>T
8 papers
NM_000463.3
p.C18insFs
c.52_53insTA
1 paper
NM_000463.3
p.C18ins1
c.52_53insTAA
1 paper
NM_000463.3
p.C18fs
c.52_53fs
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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."