Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.N198Y

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.N198Y
c.592A>T
Surrounding Variants
1 paper
NM_001164277.2
p.R197delFs
c.590_591delGC
4 papers
NM_001164277.2
p.N198I
c.593A>T
1 paper
NM_001164277.2
p.N198delFs
c.592_593delTT
2 papers
NM_001164277.2
p.L199fs
c.595_596fs
2 papers
NM_001164277.2
p.L199delFs
c.595delG
4 papers
NM_001164277.2
p.V194I
c.580G>A
2 papers
NM_001164277.2
p.A192_D193insFs
c.576_577insT
25 papers
NM_001164277.2
p.P191L
c.572C>T
2 papers
NM_001164277.2
p.P191R
c.572C>G
1 paper
NM_001164277.2
p.P191S
c.571C>T
2 papers
NM_001164277.2
p.E205E
c.615G>A
2 papers
NM_001164277.2
p.N189insFs
c.567dupT
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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."