Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.A148V

SLC37A4

293 papers

RefSeq Summary

This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium s...

Pfam Domains

MFS_1aa 17–381UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 37 member 4

HGNC Previous Symbols

G6PT1; G6PT2; G6PT3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_001164277.2
p.A148V
c.443C>T
Surrounding Variants
2 papers
NM_001164277.2
p.A148D
c.443C>A
1 paper
NM_001164277.2
p.A148Fs
c.444delinsCCAFs
37 papers
NM_001164277.2
p.G149E
c.446G>A
10 papers
NM_001164277.2
p.G150R
c.448G>C
10 papers
NM_001164277.2
p.G150R
c.448G>A
2 papers
NM_001164277.2
p.N146D
c.436A>G
1 paper
NM_001164277.2
p.M145T
c.434T>C
1 paper
NM_001164277.2
p.G152R
c.454G>C
2 papers
NM_001164277.2
p.S144N
c.431G>A
8 papers
NM_001164277.2
p.P153L
c.458C>T
1 paper
NM_001164277.2
p.T143I
c.428C>T
2 papers
NM_001164277.2
p.S142A
c.424T>G
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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."