Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.R106_V107delFs

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.R106_V107delFs
c.318_319delCT
Surrounding Variants
1 paper
NM_001008216.2
p.V107I
c.319G>A
1 paper
NM_001008216.2
p.Y105F
c.314A>T
1 paper
NM_001008216.2
p.Y105C
c.314A>G
12 papers
NM_001008216.2
p.D103G
c.308A>G
1 paper
NM_001008216.2
p.L102V
c.304C>G
1 paper
NM_001008216.2
p.K100Q
c.298A>C
1 paper
NM_001008216.2
p.L116V
c.346C>G
1 paper
NM_001008216.2
p.E117*
c.349G>T
1 paper
NM_001008216.2
p.S97L
c.290C>T
2 papers
NM_001008216.2
p.E96K
c.286G>A
5 papers
NM_001008216.2
p.G95D
c.284G>A
45 papers
NM_001008216.2
p.V94M
c.280G>A
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