Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.R51W

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
14 papers
NM_001008216.2
p.R51W
c.151C>T
Surrounding Variants
1 paper
NM_001008216.2
p.R50Q
c.149G>A
1 paper
NM_001008216.2
p.R50W
c.148C>T
1 paper
NM_001008216.2
p.E54Q
c.160G>C
1 paper
NM_001008216.2
p.S48C
c.142A>T
1 paper
NM_001008216.2
p.P46S
c.136C>T
1 paper
NM_001008216.2
p.L45Q
c.134T>A
2 papers
NM_001008216.2
p.R58C
c.172C>T
1 paper
NM_001008216.2
p.E63Q
c.187G>C
1 paper
NM_001008216.2
p.M65T
c.194T>C
1 paper
NM_001008216.2
p.I67F
c.199A>T
7 papers
NM_001008216.2
p.D69E
c.207C>G
8 papers
NM_001008216.2
p.D69E
c.207C>A
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