Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.K127_W128Splc

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
2 papers
NM_001164277.2
p.K127_W128Splc
c.381+5G>C
Surrounding Variants
1 paper
NM_001164277.2
p.K127_W128Splc
c.381+1G>C
1 paper
NM_001164277.2
p.K127_W128insFs
c.381_382insTA
2 papers
NM_001164277.2
p.K127insFs
c.380_381insTA
1 paper
NM_001164277.2
p.R126G
c.376C>G
1 paper
NM_001164277.2
p.L116_L125delFs
c.348_373del26
1 paper
NM_001164277.2
p.L125_R126insGA
c.373_377ins6
1 paper
NM_001164279.2
p.V51insFs
c.152_153insC
7 papers
NM_001164277.2
p.K123*
c.367A>T
4 papers
NM_001164277.2
p.G122E
c.365G>A
1 paper
NM_001164277.2
p.C121fs
c.361_362fs
2 papers
NM_001164277.2
p.C121R
c.361T>C
1 paper
NM_001164277.2
p.C121fs
c.361_362fs
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