Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A5
Variant:p.S83L

UGT1A5

72 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 A5

HGNC Alias Symbol

UGT1E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_019078.2
p.S83L
c.248C>T
Surrounding Variants
2 papers
NM_019078.2
p.I82_S83insFs
c.246_247insC
1 paper
NM_019078.2
p.W84*
c.251G>A
1 paper
NM_019078.2
p.W84*
c.252G>A
1 paper
NM_019078.2
p.A81V
c.242C>T
1 paper
NM_019078.2
p.Q86P
c.257A>C
1 paper
NM_019078.2
p.T78K
c.233C>A
1 paper
NM_019078.2
p.T78I
c.233C>T
1 paper
NM_019078.2
p.R91C
c.271C>T
1 paper
NM_019078.2
p.R91H
c.272G>A
2 papers
NM_019078.2
p.R91P
c.272G>C
1 paper
NM_019078.2
p.L92H
c.275T>A
1 paper
NM_019078.2
p.N73K
c.219C>A
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