Varaico: Literature-Extracted Genetic Variants

Gene:GLCE
Variant:p.S590N

GLCE

44 papers

Pfam Domains

Glce_b_sandwichaa 267–388UCSCD-glucuronyl C5-epimerase, beta-sandwich domain
C5-epim_Caa 416–607UCSCD-glucuronyl C5-epimerase C-terminus

Gene Aliases

HGNC Name

glucuronic acid epimerase

HGNC Alias Symbols

KIAA0836; HSEPI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015554.3
p.S590N
c.1769G>A
Surrounding Variants
2 papers
NM_015554.3
p.V597I
c.1789G>A
1 paper
NM_015554.3
p.F601delFs
c.1801delT
1 paper
NM_015554.3
p.K546Q
c.1636A>C
1 paper
NM_015554.3
p.K529fs
c.1585_1586fs
1 paper
NM_015554.3
p.E498K
c.1492G>A
1 paper
NM_015554.3
p.Y497insFs
c.1491dupT
1 paper
NM_015554.3
p.V489M
c.1465G>A
1 paper
NM_015554.3
p.V489L
c.1465G>C
1 paper
NM_015554.3
p.L460insFs
c.1378dupT
1 paper
NM_015554.3
p.A450T
c.1348G>A
1 paper
NM_015554.3
p.A446G
c.1337C>G
1 paper
NM_015554.3
p.L412del1
c.1234_1235delCTA
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