Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.E180E

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.E180E
c.540A>G
Surrounding Variants
3 papers
NM_000463.3
p.E180V
c.539A>T
3 papers
NM_000463.3
p.E180Q
c.538G>C
1 paper
NM_000463.3
p.L179P
c.536T>C
1 paper
NM_000463.3
p.S178S
c.534C>T
1 paper
NM_000463.3
p.S178G
c.532A>G
1 paper
NM_000463.3
p.A183G
c.548C>G
1 paper
NM_000463.3
p.C177*
c.531C>A
2 papers
NM_000463.3
p.T184_C186del0
c.551_556del6
3 papers
NM_000463.3
p.C177Y
c.530G>A
2 papers
NM_000463.3
p.T184I
c.551C>T
14 papers
NM_000463.3
p.C177R
c.529T>C
2 papers
NM_000463.3
p.P176P
c.528A>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."