Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.V94M

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
45 papers
NM_001008216.2
p.V94M
c.280G>A
Surrounding Variants
5 papers
NM_001008216.2
p.G95D
c.284G>A
2 papers
NM_001008216.2
p.E96K
c.286G>A
1 paper
NM_001008216.2
p.S97L
c.290C>T
22 papers
NM_001008216.2
p.G90E
c.269G>A
1 paper
NM_001008216.2
p.A89A
c.267G>A
3 papers
NM_001008216.2
p.A89V
c.266C>T
1 paper
NM_001008216.2
p.A89S
c.265G>T
1 paper
NM_001008216.2
p.F88delFs
c.264delA
1 paper
NM_001008216.2
p.F88fs
c.262_263fs
1 paper
NM_001008216.2
p.K100Q
c.298A>C
1 paper
NM_001008216.2
p.H87D
c.259C>G
1 paper
NM_001008216.2
p.L102V
c.304C>G
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