Varaico: Literature-Extracted Genetic Variants

Gene:GLCE
Variant:p.G387delFs

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.G387delFs
c.1161delT
Surrounding Variants
1 paper
NM_015554.3
p.D392N
c.1174G>A
1 paper
NM_015554.3
p.D392Y
c.1174G>T
1 paper
NM_015554.3
p.A408delFs
c.1222delG
1 paper
NM_015554.3
p.A408fs
c.1222_1223fs
1 paper
NM_015554.3
p.D410Y
c.1228G>T
1 paper
NM_015554.3
p.L412del1
c.1234_1235delCTA
1 paper
NM_015554.3
p.S346fs
c.1036_1037fs
1 paper
NM_015554.3
p.Y339C
c.1016A>G
1 paper
NM_015554.3
p.A446G
c.1337C>G
1 paper
NM_015554.3
p.A450T
c.1348G>A
1 paper
NM_015554.3
p.L460insFs
c.1378dupT
1 paper
NM_015554.3
p.F300F
c.900C>T
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