Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.H17Y

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.H17Y
c.49C>T
Surrounding Variants
1 paper
NM_001008216.2
p.S16N
c.47G>A
1 paper
NM_001008216.2
p.G15A
c.44G>C
1 paper
NM_001008216.2
p.G15D
c.44G>A
1 paper
NM_001008216.2
p.V19L
c.55G>C
3 papers
NM_001008216.2
p.I14T
c.41T>C
1 paper
NM_001008216.2
p.L20R
c.59T>G
1 paper
NM_001008216.2
p.Y13C
c.38A>G
1 paper
NM_001008216.2
p.E21*
c.61G>T
1 paper
NM_001008216.2
p.G12A
c.35G>C
2 papers
NM_001008216.2
p.G12S
c.34G>A
1 paper
NM_001008216.2
p.A11D
c.32C>A
1 paper
NM_001008216.2
p.G10A
c.29G>C
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