Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.K427*

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.K427*
c.1279A>T
Surrounding Variants
1 paper
NM_001164277.2
p.K426*
c.1276A>T
2 papers
NM_001164277.2
p.E429E
c.1287G>A
4 papers
NM_001164277.2
p.R423Q
c.1268G>A
6 papers
NM_001164277.2
p.R423*
c.1267C>T
1 paper
NM_001164277.2
p.R423fs
c.1267_1268fs
2 papers
NM_001164277.2
p.E429_*430delFs
c.1287_1290del4
1 paper
NM_001164277.2
p.G422insFs
c.1265dupG
3 papers
NM_001164277.2
p.K420*
c.1258A>T
1 paper
NM_001164277.2
p.L414_R418del5
c.1240_1253del15
1 paper
NM_001164277.2
p.R415delFs
c.1243_1244delCG
22 papers
NM_001164277.2
p.R415*
c.1243C>T
NM_001164278.2
p.R437*
c.1309C>T
2 papers
NM_001164277.2
p.R415G
c.1243C>G
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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."