Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.T205delFs

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.T205delFs
c.615delC
Surrounding Variants
1 paper
NM_000463.3
p.T205N
c.614C>A
2 papers
NM_000463.3
p.T205I
c.614C>T
1 paper
NM_000463.3
p.F206delFs
c.617delT
6 papers
NM_000463.3
p.M204V
c.610A>G
2 papers
NM_000463.3
p.F206L
c.616T>C
1 paper
NM_000463.3
p.F206fs
c.616_617fs
1 paper
NM_000463.3
p.H203Q
c.609C>A
1 paper
NM_000463.3
p.H203H
c.609C>T
1 paper
NM_000463.3
p.H203insFs
c.607_608insT
1 paper
NM_000463.3
p.L207V
c.619C>G
4 papers
NM_000463.3
p.H203_K211del0
c.609_632del24
1 paper
NM_000463.3
p.L207Q
c.620T>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."