Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.S392R

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
1 paper
NM_001164277.2
p.S392R
c.1176T>G
Surrounding Variants
2 papers
NM_001164277.2
p.S392fs
c.1174_1175fs
1 paper
NM_001164277.2
p.S392S
c.1176T>C
1 paper
NM_001164277.2
p.S392R
c.1176T>A
3 papers
NM_001164277.2
p.S392delFs
c.1175delC
1 paper
NM_001164277.2
p.W393R
c.1177T>C
1 paper
NM_001164277.2
p.W393R
c.1177T>A
1 paper
NM_001164277.2
p.S392fs
c.1174_1175fs
16 papers
NM_001164277.2
p.W393*
c.1178G>A
NM_001164278.2
p.W415*
c.1244G>A
1 paper
NM_001164277.2
p.S392R
c.1174A>C
16 papers
NM_001164277.2
p.W393*
c.1179G>A
NM_001164278.2
p.W415*
c.1245G>A
1 paper
NM_001164277.2
p.S394I
c.1181G>T
1 paper
NM_001164277.2
p.T395I
c.1184C>T
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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."