Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.P194_R195insFs

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.P194_R195insFs
c.582_583insT
Surrounding Variants
3 papers
NM_000463.3
p.P194L
c.581C>T
1 paper
NM_000463.3
p.P194delFs
c.582delC
3 papers
NM_000463.3
p.V193G
c.578T>G
4 papers
NM_000463.3
p.V193M
c.577G>A
3 papers
NM_000463.3
p.Y192*
c.576C>A
4 papers
NM_000463.3
p.Y192*
c.576C>G
1 paper
NM_000463.3
p.Y192Y
c.576C>T
1 paper
NM_000463.3
p.V193_M204del12
c.577_611del36
1 paper
NM_000463.3
p.P196P
c.588T>C
1 paper
NM_000463.3
p.P196P
c.588T>G
2 papers
NM_000463.3
p.Y192C
c.575A>G
1 paper
NM_000463.3
p.L197F
c.589C>T
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