Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A1
Variant:p.Y52H

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.Y52H
c.154T>C
Surrounding Variants
1 paper
NM_001320537.2
p.H50R
c.149A>G
1 paper
NM_001320537.2
p.Q66*
c.196C>T
1 paper
NM_001320537.2
p.D84N
c.250G>A
1 paper
NM_001320537.2
p.V112V
c.336G>C
2 papers
NM_001320537.2
p.G113G
c.339G>C
1 paper
NM_001320537.2
p.G138A
c.413G>C
1 paper
NM_001320537.2
p.L146V
c.436T>G
1 paper
NM_001320537.2
p.H153L
c.458A>T
2 papers
NM_001320537.2
p.S154C
c.460A>T
1 paper
NM_001320537.2
p.V159M
c.475G>A
1 paper
NM_001320537.2
p.W173*
c.518G>A
1 paper
NM_001320537.2
p.W173*
c.519G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."