Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.N34S

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
20 papers
NM_001008216.2
p.N34S
c.101A>G
Surrounding Variants
1 paper
NM_001008216.2
p.D33G
c.98A>G
2 papers
NM_001008216.2
p.D33N
c.97G>A
1 paper
NM_001008216.2
p.I32N
c.95T>A
1 paper
NM_001008216.2
p.V31I
c.91G>A
1 paper
NM_001008216.2
p.F39I
c.115T>A
1 paper
NM_001008216.2
p.P29L
c.86C>T
1 paper
NM_001008216.2
p.P29A
c.85C>G
6 papers
NM_001008216.2
p.R40C
c.118C>T
2 papers
NM_001008216.2
p.G26A
c.77G>C
1 paper
NM_001008216.2
p.G26D
c.77G>A
6 papers
NM_001008216.2
p.A25V
c.74C>T
1 paper
NM_001008216.2
p.E21*
c.61G>T
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