Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.L348delFs

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
49 papers
NM_001164277.2
p.L348delFs
c.1042_1043delAG
Surrounding Variants
14 papers
NM_001164277.2
p.L348fs
c.1042_1043fs
4 papers
NM_001164277.2
p.L348P
c.1043T>C
1 paper
NM_001164277.2
p.F349fs
c.1045_1046fs
22 papers
NM_001164277.2
p.L348fs
c.1042_1043fs
3 papers
NM_001164277.2
p.A347fs
c.1039_1040fs
1 paper
NM_001164277.2
p.V351F
c.1051G>T
1 paper
NM_001164277.2
p.V351I
c.1051G>A
1 paper
NM_001164277.2
p.V351A
c.1052T>C
1 paper
NM_001164277.2
p.Y343_I346Fs
c.1028_1036delinsTGCCTCGFs
1 paper
NM_001164277.2
p.I352insFs
c.1054dupA
1 paper
NM_001164277.2
p.F338_Y343delFs
c.1013_1029del17
1 paper
NM_001164277.2
p.Y343fs
c.1027_1028fs
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