Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.R256G

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
2 papers
NM_001008216.2
p.R256G
c.766A>G
Surrounding Variants
1 paper
NM_001008216.2
p.R256W
c.766A>T
25 papers
NM_001008216.2
p.K257R
c.770A>G
6 papers
NM_001008216.2
p.I252T
c.755T>C
1 paper
NM_001008216.2
p.H251H
c.753C>T
1 paper
NM_001008216.2
p.C262Y
c.785G>A
1 paper
NM_001008216.2
p.C264Fs
c.790delinsGAATAGACCCCAFs
1 paper
NM_001008216.2
p.R265Q
c.794G>A
2 papers
NM_001008216.2
p.D246N
c.736G>A
1 paper
NM_001008216.2
p.V245M
c.733G>A
4 papers
NM_001008216.2
p.H243P
c.728A>C
1 paper
NM_001008216.2
p.Y241delFs
c.723delG
1 paper
NM_001008216.2
p.Y241delFs
c.721delA
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