Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.A180V

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.A180V
c.539C>T
Surrounding Variants
3 papers
NM_001008216.2
p.A180T
c.538G>A
1 paper
NM_001008216.2
p.L182P
c.545T>C
1 paper
NM_001008216.2
p.L182Q
c.545T>A
1 paper
NM_001008216.2
p.L183M
c.547C>A
19 papers
NM_001008216.2
p.L183P
c.548T>C
1 paper
NM_001008216.2
p.T177I
c.530C>T
1 paper
NM_001008216.2
p.K176_T177Splc
c.529-1G>T
1 paper
NM_001008216.2
p.R184C
c.550C>T
1 paper
NM_001008216.2
p.R184G
c.550C>G
3 papers
NM_001008216.2
p.R184H
c.551G>A
1 paper
NM_001008216.2
p.R184R
c.552C>A
1 paper
NM_001008216.2
p.Y185C
c.554A>G
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