Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.Y136*

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.Y136*
c.408C>G
Surrounding Variants
1 paper
NM_001008216.2
p.Y136*
c.408C>A
1 paper
NM_001008216.2
p.V135L
c.403G>T
1 paper
NM_001008216.2
p.T134S
c.401C>G
2 papers
NM_001008216.2
p.P139R
c.416C>G
1 paper
NM_001008216.2
p.T134S
c.400A>T
1 paper
NM_001008216.2
p.T134A
c.400A>G
1 paper
NM_001008216.2
p.A133V
c.398C>T
1 paper
NM_001008216.2
p.Q140delFs
c.419delT
1 paper
NM_001008216.2
p.Y141H
c.421T>C
1 paper
NM_001008216.2
p.S132A
c.394T>G
1 paper
NM_001008216.2
p.L144V
c.430C>G
1 paper
NM_001008216.2
p.V128E
c.383T>A
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