Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.P210L

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.P210L
c.629C>T
Surrounding Variants
1 paper
NM_001008216.2
p.P210S
c.628C>T
1 paper
NM_001008216.2
p.Y211C
c.632A>G
1 paper
NM_001008216.2
p.V212fs
c.634_635fs
1 paper
NM_001008216.2
p.V212delFs
c.634_635delAC
2 papers
NM_001008216.2
p.P205L
c.614C>T
1 paper
NM_001008216.2
p.P205T
c.613C>A
1 paper
NM_001008216.2
p.I204T
c.611T>C
1 paper
NM_001008216.2
p.G203G
c.609C>T
2 papers
NM_001008216.2
p.P201L
c.602C>T
1 paper
NM_001008216.2
p.I197T
c.590T>C
1 paper
NM_001008216.2
p.H192delFs
c.576delA
1 paper
NM_001008216.2
p.H192fs
c.574_575fs
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