Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.C183R

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
17 papers
NM_001164277.2
p.C183R
c.547T>C
Surrounding Variants
2 papers
NM_001164277.2
p.L185P
c.554T>C
2 papers
NM_001164279.2
p.L113F
c.337C>T
NM_001164277.2
p.L186F
c.556C>T
2 papers
NM_001164277.2
p.L186P
c.557T>C
1 paper
NM_001164277.2
p.I187V
c.559A>G
1 paper
NM_001164277.2
p.V177insFs
c.529_530insC
2 papers
NM_001164277.2
p.C176delFs
c.528delA
1 paper
NM_001164277.2
p.V177fs
c.529_530fs
6 papers
NM_001164277.2
p.C176_V177insFs
c.528_529insC
3 papers
NM_001164277.2
p.C176delFs
c.527delC
NM_001164279.2
p.C103delFs
c.308delC
13 papers
NM_001164277.2
p.C176R
c.526T>C
2 papers
NM_001164277.2
p.N189insFs
c.567dupT
1 paper
NM_001164277.2
p.C176R
c.526T>C
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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."