Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.C186S

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.C186S
c.557G>C
Surrounding Variants
3 papers
NM_000463.3
p.C186Y
c.557G>A
3 papers
NM_000463.3
p.C186*
c.558C>A
1 paper
NM_000463.3
p.P187A
c.559C>G
4 papers
NM_000463.3
p.P187S
c.559C>T
7 papers
NM_000463.3
p.Q185P
c.554A>C
1 paper
NM_000463.3
p.P187R
c.560C>G
2 papers
NM_000463.3
p.N188Y
c.562A>T
2 papers
NM_000463.3
p.T184I
c.551C>T
2 papers
NM_000463.3
p.T184_C186del0
c.551_556del6
1 paper
NM_000463.3
p.A183G
c.548C>G
1 paper
NM_000463.3
p.F190insFs
c.569dupT
1 paper
NM_000463.3
p.F190Y
c.569T>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."