Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.T150M

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
13 papers
NM_001008216.2
p.T150M
c.449C>T
Surrounding Variants
1 paper
NM_001008216.2
p.T150A
c.448A>G
1 paper
NM_001008216.2
p.G151C
c.451G>T
3 papers
NM_001008216.2
p.G151D
c.452G>A
1 paper
NM_001008216.2
p.G152insFs
c.454_455ins1
1 paper
NM_001008216.2
p.D145_G151delFs
c.435_453del19
1 paper
NM_001008216.2
p.H148Q
c.444C>G
1 paper
NM_001008216.2
p.H148Q
c.444C>A
1 paper
NM_001008216.2
p.E146K
c.436G>A
1 paper
NM_001008216.2
p.N155N
c.465C>T
1 paper
NM_001008216.2
p.P156A
c.466C>G
1 paper
NM_001008216.2
p.L144V
c.430C>G
2 papers
NM_001008216.2
p.Y157F
c.470A>T
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