Varaico: Literature-Extracted Genetic Variants

Gene:GLCE
Variant:p.G179V

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.G179V
c.536G>T
Surrounding Variants
2 papers
NM_015554.3
p.S176F
c.527C>T
1 paper
NM_015554.3
p.V143M
c.427G>A
1 paper
NM_015554.3
p.E125*
c.373G>T
1 paper
NM_015554.3
p.I107V
c.319A>G
1 paper
NM_015554.3
p.E106G
c.317A>G
2 papers
NM_015554.3
p.E105D
c.315A>T
1 paper
NM_015554.3
p.Y104C
c.311A>G
1 paper
NM_015554.3
p.K98K
c.294G>A
1 paper
NM_015554.3
p.S97N
c.290G>A
5 papers
NM_015554.3
p.M65V
c.193A>G
1 paper
NM_015554.3
p.M65L
c.193A>T
1 paper
NM_015554.3
p.R55delFs
c.163delA
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