Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.D69E

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
7 papers
NM_001008216.2
p.D69E
c.207C>G
Surrounding Variants
8 papers
NM_001008216.2
p.D69E
c.207C>A
1 paper
NM_001008216.2
p.A72T
c.214G>A
1 paper
NM_001008216.2
p.I67F
c.199A>T
1 paper
NM_001008216.2
p.M65T
c.194T>C
1 paper
NM_001008216.2
p.Q74*
c.220C>T
1 paper
NM_001008216.2
p.Q74Q
c.222G>A
1 paper
NM_001008216.2
p.R75C
c.223C>T
1 paper
NM_001008216.2
p.E63Q
c.187G>C
2 papers
NM_001008216.2
p.F77insFs
c.230_231ins4
1 paper
NM_001008216.2
p.F77_K78insFs
c.231_232ins5
2 papers
NM_001008216.2
p.K78fs
c.232_233fs
1 paper
NM_001008216.2
p.K79K
c.237G>A
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