Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.Q173P

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.Q173P
c.518A>C
Surrounding Variants
1 paper
NM_001008216.2
p.A174P
c.520G>C
8 papers
NM_001008216.2
p.D175N
c.523G>A
1 paper
NM_001008216.2
p.L171P
c.512T>C
1 paper
NM_001008216.2
p.D170D
c.510C>T
1 paper
NM_001008216.2
p.D170E
c.510C>A
1 paper
NM_001008216.2
p.K176E
c.526A>G
1 paper
NM_001008216.2
p.D170V
c.509A>T
1 paper
NM_001008216.2
p.K176_T177Splc
c.528+1G>A
2 papers
NM_001008216.2
p.K176_T177insFs
c.528_529insG
3 papers
NM_001008216.2
p.R169Q
c.506G>A
19 papers
NM_001008216.2
p.R169W
c.505C>T
10 papers
NM_001008216.2
p.E165K
c.493G>A
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