Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.E380Q

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.E380Q
c.1138G>C
Surrounding Variants
2 papers
NM_000463.3
p.E380G
c.1139A>G
16 papers
NM_000463.3
p.S381R
c.1141A>C
1 paper
NM_000463.3
p.S381N
c.1142G>A
16 papers
NM_000463.3
p.S381R
c.1143C>A
16 papers
NM_000463.3
p.S381R
c.1143C>G
2 papers
NM_000463.3
p.V378I
c.1132G>A
1 paper
NM_000463.3
p.V378fs
c.1132_1133fs
9 papers
NM_000463.3
p.G377V
c.1130G>T
1 paper
NM_000463.3
p.C383Y
c.1148G>A
5 papers
NM_000463.3
p.H376R
c.1127A>G
1 paper
NM_000463.3
p.N384D
c.1150A>G
2 papers
NM_000463.3
p.H376Y
c.1126C>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."