Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.I431T

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
4 papers
NM_000463.3
p.I431T
c.1292T>C
Surrounding Variants
3 papers
NM_000463.3
p.N432D
c.1294A>G
3 papers
NM_000463.3
p.D433_K434del2
c.1297_1301del6
9 papers
NM_000463.3
p.D433A
c.1298A>C
1 paper
NM_000463.3
p.S435insFs
c.1303dupA
9 papers
NM_000463.3
p.K428E
c.1282A>G
1 paper
NM_000463.3
p.S435R
c.1303A>C
1 paper
NM_000463.3
p.S435G
c.1303A>G
1 paper
NM_000463.3
p.S435fs
c.1303_1304fs
1 paper
NM_000463.3
p.S435N
c.1304G>A
1 paper
NM_000463.3
p.L427L
c.1279C>T
7 papers
NM_000463.3
p.S435Splc
c.1304+1G>T
1 paper
NM_000463.3
p.S435Splc
c.1304+2T>C
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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."