Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.S42delFs

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.S42delFs
c.124delA
Surrounding Variants
1 paper
NM_000463.3
p.S42fs
c.124_125fs
1 paper
NM_000463.3
p.S42N
c.125G>A
2 papers
NM_000463.3
p.W40*
c.120G>A
1 paper
NM_000463.3
p.W40C
c.120G>C
2 papers
NM_000463.3
p.W40*
c.119G>A
5 papers
NM_000463.3
p.W40R
c.118T>A
5 papers
NM_000463.3
p.W40R
c.118T>C
1 paper
NM_000463.3
p.M43T
c.128T>C
1 paper
NM_000463.3
p.W40delFs
c.120delG
3 papers
NM_000463.3
p.H39_W40insFs
c.117_118insT
1 paper
NM_000463.3
p.W40delFs
c.118delT
1 paper
NM_000463.3
p.M43_L44insFs
c.129_130insC
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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."