Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A8
Variant:p.C277C

UGT1A8

178 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 A8

HGNC Alias Symbol

UGT1H

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_019076.5
p.C277C
c.831C>T
Surrounding Variants
37 papers
NM_019076.5
p.C277Y
c.830G>A
1 paper
NM_019076.5
p.N276K
c.828C>A
1 paper
NM_019076.5
p.I270V
c.808A>G
1 paper
NM_019076.5
p.N268N
c.804T>C
2 papers
NM_019076.5
p.Y261Y
c.783T>C
4 papers
NM_019076.5
p.D256N
c.766G>A
7 papers
NM_019076.5
p.T255T
c.765A>G
1 paper
NM_019076.5
p.T255A
c.763A>G
1 paper
NM_019076.5
p.R254*
c.760C>T
2 papers
NM_019076.5
p.M285_E286Splc
c.855+51A>T
2 papers
NM_019076.5
p.L252L
c.756G>A
1 paper
NM_019076.5
p.W251R
c.751T>C
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