Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.H376R

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
5 papers
NM_000463.3
p.H376R
c.1127A>G
Surrounding Variants
2 papers
NM_000463.3
p.H376Y
c.1126C>T
17 papers
NM_000463.3
p.S375F
c.1124C>T
9 papers
NM_000463.3
p.G377V
c.1130G>T
2 papers
NM_000463.3
p.V378I
c.1132G>A
1 paper
NM_000463.3
p.V378fs
c.1132_1133fs
1 paper
NM_000463.3
p.G374S
c.1120G>A
1 paper
NM_000463.3
p.V378_V389insFs
c.1133_1167dup35
1 paper
NM_000463.3
p.V378_V389delFs
c.1133_1167del35
1 paper
NM_000463.3
p.A373fs
c.1117_1118fs
1 paper
NM_000463.3
p.A373_C383delFs
c.1118_1149del32
1 paper
NM_000463.3
p.E380Q
c.1138G>C
2 papers
NM_000463.3
p.E380G
c.1139A>G
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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."