Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.E205E

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.E205E
c.615G>A
Surrounding Variants
2 papers
NM_001164277.2
p.G206D
c.617G>A
1 paper
NM_001164277.2
p.K208K
c.624G>A
3 papers
NM_001164277.2
p.G209S
c.625G>A
1 paper
NM_001164277.2
p.G209Splc
c.625+2T>C
1 paper
NM_001467.6
p.G209Splc
c.625+5G>A
2 papers
NM_001164277.2
p.L199delFs
c.595delG
2 papers
NM_001164277.2
p.L199fs
c.595_596fs
1 paper
NM_001164277.2
p.N198delFs
c.592_593delTT
4 papers
NM_001164277.2
p.N198I
c.593A>T
1 paper
NM_001164277.2
p.N198Y
c.592A>T
1 paper
NM_001164277.2
p.R197delFs
c.590_591delGC
1 paper
NM_001164277.2
p.G209Splc
c.625+19C>T
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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."