Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A1
Variant:p.L478Q

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.L478Q
c.1433T>A
Surrounding Variants
1 paper
NM_001320537.2
p.F508C
c.1523T>G
1 paper
NM_001320537.2
p.P529L
c.1586C>T
1 paper
NM_001320537.2
p.P529Splc
c.1587-22C>G
1 paper
NM_001320537.2
p.G472S
c.1414G>A
1 paper
NM_001320537.2
p.A466T
c.1396G>A
1 paper
NM_001320537.2
p.A460T
c.1378G>A
1 paper
NM_001320537.2
p.A458T
c.1372G>A
1 paper
NM_001320537.2
p.A424S
c.1270G>T
1 paper
NM_001320537.2
p.K416delFs
c.1246_1247delAA
2 papers
NM_001320537.2
p.S415C
c.1243A>T
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