Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.F162L

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.F162L
c.484T>C
Surrounding Variants
1 paper
NM_001008216.2
p.F162I
c.484T>A
9 papers
NM_001008216.2
p.K161N
c.483G>T
8 papers
NM_001008216.2
p.K161N
c.483G>C
1 paper
NM_001008216.2
p.F162L
c.486C>G
1 paper
NM_001008216.2
p.F162L
c.486C>A
10 papers
NM_001008216.2
p.E165K
c.493G>A
1 paper
NM_001008216.2
p.G158A
c.473G>C
1 paper
NM_001008216.2
p.G158R
c.472G>C
2 papers
NM_001008216.2
p.G158S
c.472G>A
2 papers
NM_001008216.2
p.Y157*
c.471C>G
2 papers
NM_001008216.2
p.Y157*
c.471C>A
2 papers
NM_001008216.2
p.Y157F
c.470A>T
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