Varaico: Literature-Extracted Genetic Variants

Gene:RSC1A1
Variant:p.A370A

RSC1A1

45 papers

RefSeq Summary

The protein encoded by this intronless gene inhibits the expression of the solute carrier family 5 (sodium/glucose cotransporter), member 1 gene (SLC5A1) and downregulates exocytosis of the SLC5A1 pro...

Gene Aliases

HGNC Name

regulator of solute carriers 1

HGNC Previous Name

regulatory solute carrier protein, family 1, member 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006511.3
p.A370A
c.1110T>C
Surrounding Variants
1 paper
NM_006511.3
p.I385M
c.1155A>G
1 paper
NM_006511.3
p.P340S
c.1018C>T
1 paper
NM_006511.3
p.E425*
c.1273G>T
1 paper
NM_006511.3
p.T426I
c.1277C>T
1 paper
NM_006511.3
p.F446L
c.1336T>C
1 paper
NM_006511.3
p.F446L
c.1338C>A
1 paper
NM_006511.3
p.F446L
c.1338C>G
1 paper
NM_006511.3
p.D456N
c.1366G>A
1 paper
NM_006511.3
p.D279fs
c.835_836fs
1 paper
NM_006511.3
p.D279_L282delFs
c.836_846del11
1 paper
NM_006511.3
p.I275M
c.825T>G
2 papers
NM_006511.3
p.N271S
c.812A>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."