Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.R239W

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
15 papers
NM_001008216.2
p.R239W
c.715C>T
Surrounding Variants
3 papers
NM_001008216.2
p.R239Q
c.716G>A
1 paper
NM_001008216.2
p.V238I
c.712G>A
5 papers
NM_001008216.2
p.G237D
c.710G>A
1 paper
NM_001008216.2
p.Y241delFs
c.721delA
1 paper
NM_001008216.2
p.Y241delFs
c.723delG
4 papers
NM_001008216.2
p.H243P
c.728A>C
1 paper
NM_001008216.2
p.V245M
c.733G>A
2 papers
NM_001008216.2
p.D246N
c.736G>A
1 paper
NM_001008216.2
p.G237Splc
c.710-16A>G
1 paper
NM_001008216.2
p.H251H
c.753C>T
6 papers
NM_001008216.2
p.I252T
c.755T>C
1 paper
NM_001008216.2
p.R256W
c.766A>T
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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."