Varaico: Literature-Extracted Genetic Variants

Gene:GALE

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
1–12 of 262 variants
45 papers
NM_001008216.2
p.V94M
c.280G>A
26 papers
NM_001008216.2
p.G319E
c.956G>A
25 papers
NM_001008216.2
p.K257R
c.770A>G
22 papers
NM_001008216.2
p.G90E
c.269G>A
20 papers
NM_001008216.2
p.N34S
c.101A>G
19 papers
NM_001008216.2
p.R169W
c.505C>T
19 papers
NM_001008216.2
p.L183P
c.548T>C
16 papers
NM_001008216.2
p.G302D
c.905G>A
15 papers
NM_001008216.2
p.R239W
c.715C>T
14 papers
NM_001008216.2
p.R51W
c.151C>T
13 papers
NM_001008216.2
p.T150M
c.449C>T
12 papers
NM_001008216.2
p.D103G
c.308A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."