Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.L144V

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.L144V
c.430C>G
Surrounding Variants
1 paper
NM_001008216.2
p.E146K
c.436G>A
1 paper
NM_001008216.2
p.Y141H
c.421T>C
1 paper
NM_001008216.2
p.Q140delFs
c.419delT
2 papers
NM_001008216.2
p.P139R
c.416C>G
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.T150A
c.448A>G
13 papers
NM_001008216.2
p.T150M
c.449C>T
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.Y136*
c.408C>G
1 paper
NM_001008216.2
p.Y136*
c.408C>A
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