Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.M390fs

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.M390fs
c.1168_1169fs
Surrounding Variants
1 paper
NM_000463.3
p.M391_L393del3
c.1171_1178del9
3 papers
NM_000463.3
p.M391K
c.1172T>A
1 paper
NM_000463.3
p.P392S
c.1174C>T
8 papers
NM_000463.3
p.P392L
c.1175C>T
6 papers
NM_000463.3
p.P387H
c.1160C>A
1 paper
NM_000463.3
p.P387insFs
c.1160_1161ins8
8 papers
NM_000463.3
p.P387R
c.1160C>G
2 papers
NM_000463.3
p.P387L
c.1160C>T
1 paper
NM_000463.3
p.P387delins
c.1160_1161delinsGT
2 papers
NM_000463.3
p.P387A
c.1159C>G
7 papers
NM_000463.3
p.P387S
c.1159C>T
1 paper
NM_000463.3
p.V386G
c.1157T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."