Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.R28H

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
24 papers
NM_001164277.2
p.R28H
c.83G>A
Surrounding Variants
16 papers
NM_001164277.2
p.R28C
c.82C>T
13 papers
NM_001164277.2
p.N27K
c.81T>G
14 papers
NM_001164277.2
p.N27K
c.81T>A
1 paper
NM_001164277.2
p.N27H
c.79A>C
1 paper
NM_001164277.2
p.T30N
c.89C>A
1 paper
NM_001164277.2
p.Y25Y
c.75C>T
1 paper
NM_001164277.2
p.Y25H
c.73T>C
1 paper
NM_001164277.2
p.S32A
c.94T>G
6 papers
NM_001164277.2
p.F31_S32del1
c.92_94delAGA
10 papers
NM_001164277.2
p.Y24H
c.70T>C
1 paper
NM_001164277.2
p.F33insFs
c.97_98ins4
1 paper
NM_001164277.2
p.F33insFs
c.98_99insG
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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."