Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A1
Variant:p.R188Splc

SLC37A1

45 papers

RefSeq Summary

The protein encoded by this gene localizes to the endoplasmic reticulum (ER) membrane. This protein translocates glucose-6-phosphate from the cytoplasm into the lumen of the ER for hydrolysis into glu...

Pfam Domains

MFS_1aa 78–458UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 37 member 1

HGNC Alias Symbol

SPX1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001320537.2
p.R188Splc
c.564-2A>G
Surrounding Variants
1 paper
NM_001320537.2
p.R188Splc
c.564-19C>T
1 paper
NM_001320537.2
p.V176I
c.526G>A
1 paper
NM_001320537.2
p.W173*
c.519G>A
1 paper
NM_001320537.2
p.W173*
c.518G>A
1 paper
NM_001320537.2
p.H244Splc
c.731-21C>G
1 paper
NM_001320537.2
p.T253I
c.758C>T
1 paper
NM_001320537.2
p.V159M
c.475G>A
2 papers
NM_001320537.2
p.S154C
c.460A>T
1 paper
NM_001320537.2
p.H153L
c.458A>T
1 paper
NM_001320537.2
p.L146V
c.436T>G
1 paper
NM_001320537.2
p.G138A
c.413G>C
2 papers
NM_001320537.2
p.G113G
c.339G>C
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