Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A1

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
1–12 of 44 variants
2 papers
NM_001320537.2
p.G113G
c.339G>C
2 papers
NM_001320537.2
p.S154C
c.460A>T
2 papers
NM_001320537.2
p.P301S
c.901C>T
2 papers
NM_001320537.2
p.S415C
c.1243A>T
1 paper
NM_001320537.2
p.W19S
c.56G>C
1 paper
NM_001320537.2
p.H36Y
c.106C>T
1 paper
NM_001320537.2
p.I42F
c.124A>T
1 paper
NM_001320537.2
p.S43T
c.128G>C
1 paper
NM_001320537.2
p.K46K
c.138G>A
1 paper
NM_001320537.2
p.H50R
c.149A>G
1 paper
NM_001320537.2
p.Y52H
c.154T>C
1 paper
NM_001320537.2
p.Q66*
c.196C>T
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