Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A10
Variant:p.L48P

UGT1A10

150 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 26–521UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glucuronosyltransferase family 1 member A10

HGNC Alias Symbol

UGT1J

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019075.4
p.L48P
c.143T>C
Surrounding Variants
3 papers
NM_019075.4
p.L48V
c.142C>G
1 paper
NM_019075.4
p.L50L
c.150C>G
3 papers
NM_019075.4
p.R51delFs
c.151delA
1 paper
NM_019075.4
p.R51fs
c.151_152fs
2 papers
NM_019075.4
p.H53R
c.158A>G
2 papers
NM_019075.4
p.Q42Q
c.126G>A
4 papers
NM_019075.4
p.V55M
c.163G>A
1 paper
NM_019075.4
p.V56I
c.166G>A
1 paper
NM_019075.4
p.V56D
c.167T>A
1 paper
NM_019075.4
p.T40A
c.118A>G
1 paper
NM_019075.4
p.V58D
c.173T>A
11 papers
NM_019075.4
p.M59I
c.177G>A
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