Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.S342*

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.S342*
c.1025C>A
Surrounding Variants
3 papers
NM_001164277.2
p.S342P
c.1024T>C
NM_001164279.2
p.S269P
c.805T>C
1 paper
NM_001164277.2
p.Y343fs
c.1027_1028fs
1 paper
NM_001164277.2
p.F338_Y343delFs
c.1013_1029del17
1 paper
NM_001164277.2
p.G339V
c.1016G>T
15 papers
NM_001164277.2
p.G339D
c.1016G>A
30 papers
NM_001164277.2
p.G339C
c.1015G>T
1 paper
NM_001164277.2
p.G339S
c.1015G>A
1 paper
NM_001164277.2
p.F338L
c.1014T>G
1 paper
NM_001164277.2
p.F338L
c.1014T>A
1 paper
NM_001164277.2
p.Y343_I346Fs
c.1028_1036delinsTGCCTCGFs
1 paper
NM_001164277.2
p.F338S
c.1013T>C
1 paper
NM_001164277.2
p.F338L
c.1012T>C
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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."