Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.A314T

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.A314T
c.940G>A
Surrounding Variants
10 papers
NM_001008216.2
p.L313M
c.937C>A
1 paper
NM_001008216.2
p.S312fs
c.934_935fs
1 paper
NM_001008216.2
p.P311delFs
c.933delG
1 paper
NM_001008216.2
p.L318Q
c.953T>A
1 paper
NM_001008216.2
p.G319R
c.955G>C
2 papers
NM_001008216.2
p.A309T
c.925G>A
1 paper
NM_001008216.2
p.G319R
c.955G>A
26 papers
NM_001008216.2
p.G319E
c.956G>A
2 papers
NM_001008216.2
p.Y308C
c.923A>G
1 paper
NM_001008216.2
p.L318_G319del2
c.952_956del6
2 papers
NM_001008216.2
p.C307Y
c.920G>A
1 paper
NM_001008216.2
p.A322V
c.965C>T
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