Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.R415*

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
22 papers
NM_001164277.2
p.R415*
c.1243C>T
NM_001164278.2
p.R437*
c.1309C>T
Surrounding Variants
2 papers
NM_001164277.2
p.R415G
c.1243C>G
1 paper
NM_001164277.2
p.R415delFs
c.1243_1244delCG
1 paper
NM_001164277.2
p.L414_R418del5
c.1240_1253del15
3 papers
NM_001164277.2
p.K420*
c.1258A>T
1 paper
NM_001164277.2
p.A409T
c.1225G>A
1 paper
NM_001164277.2
p.T408T
c.1224G>A
1 paper
NM_001164277.2
p.G422insFs
c.1265dupG
6 papers
NM_001164277.2
p.R423*
c.1267C>T
1 paper
NM_001164277.2
p.R423fs
c.1267_1268fs
4 papers
NM_001164277.2
p.R423Q
c.1268G>A
1 paper
NM_001164277.2
p.C404delFs
c.1210delA
1 paper
NM_001164277.2
p.K426*
c.1276A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."