Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.Q357insFs

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.Q357insFs
c.1069_1070insC
Surrounding Variants
2 papers
NM_000463.3
p.L355P
c.1064T>C
11 papers
NM_000463.3
p.Q357*
c.1069C>T
1 paper
NM_000463.3
p.N358delFs
c.1073delA
2 papers
NM_000463.3
p.Q357insFs
c.1070_1071insC
32 papers
NM_000463.3
p.Q357R
c.1070A>G
8 papers
NM_000463.3
p.W354R
c.1060T>A
7 papers
NM_000463.3
p.W354R
c.1060T>C
1 paper
NM_000463.3
p.K353T
c.1058A>C
1 paper
NM_000463.3
p.N358fs
c.1072_1073fs
2 papers
NM_000463.3
p.K353_W354insA
c.1057_1061ins3
1 paper
NM_000463.3
p.K353_W354del2
c.1057_1061del6
6 papers
NM_000463.3
p.D359N
c.1075G>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."