Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A4
Variant:p.F495S

UGT1A4

192 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 29–525UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glucuronosyltransferase family 1 member A4

HGNC Alias Symbols

HUG-BR2; UGT1D

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007120.3
p.F495S
c.1484T>C
Surrounding Variants
5 papers
NM_007120.3
p.Y487D
c.1459T>G
1 paper
NM_007120.3
p.T507delFs
c.1521delC
1 paper
NM_007120.3
p.Y515*
c.1545C>A
1 paper
NM_007120.3
p.Y515*
c.1545C>G
1 paper
NM_007120.3
p.Y515Y
c.1545C>T
1 paper
NM_007120.3
p.R524*
c.1570C>T
1 paper
NM_007120.3
p.V460M
c.1378G>A
1 paper
NM_007120.3
p.P452L
c.1355C>T
1 paper
NM_007120.3
p.S436Splc
c.1307+574C>T
1 paper
NM_007120.3
p.S436insFs
c.1306dupA
1 paper
NM_007120.3
p.N433T
c.1298A>C
1 paper
NM_007120.3
p.E418*
c.1252G>T
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