Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.Y294*

GALE

200 papers

RefSeq Summary

This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to...

Pfam Domains

GDP_Man_Dehydaa 6–333UCSCGDP-mannose 4,6 dehydratase

Gene Aliases

HGNC Name

UDP-galactose-4-epimerase

HGNC Alias Symbol

SDR1E1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001008216.2
p.Y294*
c.882C>A
Surrounding Variants
1 paper
NM_001008216.2
p.Y294*
c.882C>G
12 papers
NM_001008216.2
p.P293L
c.878C>T
1 paper
NM_001008216.2
p.R299P
c.896G>C
1 paper
NM_001008216.2
p.R299Q
c.896G>A
1 paper
NM_001008216.2
p.R300W
c.898C>T
1 paper
NM_001008216.2
p.R300Q
c.899G>A
1 paper
NM_001008216.2
p.G302C
c.904G>T
3 papers
NM_001008216.2
p.G302R
c.904G>C
16 papers
NM_001008216.2
p.G302D
c.905G>A
1 paper
NM_001008216.2
p.V304V
c.912G>A
2 papers
NM_001008216.2
p.C307Y
c.920G>A
2 papers
NM_001008216.2
p.Y308C
c.923A>G
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